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<title>
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Entry
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- #603932 - INTERVERTEBRAL DISC DISEASE; IDD
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- OMIM
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(INTERVERTEBRAL DISC DISEASE) OR (ASPN OR COL11A1 OR THBS2 OR COL9A3 OR CILP)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3845" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="#mimMedlinePlusGeneticsFold" id="mimMedlinePlusGeneticsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Consumer-friendly information about the effects of genetic variation on human health."><span id="mimMedlinePlusGeneticsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>MedlinePlus Genetics</div>
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<div id="mimMedlinePlusGeneticsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://medlineplus.gov/genetics/condition/intervertebral-disc-disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">Intervertebral disc disease </a></div><div style="margin-left: 0.5em;"><a href="https://medlineplus.gov/genetics/gene/col9a2" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">COL9A2 gene </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603932[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 36427004<br />
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<strong>ICD9CM:</strong> 722<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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603932
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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INTERVERTEBRAL DISC DISEASE; IDD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
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LUMBAR DISC DISEASE, INCLUDED; LDD, INCLUDED
|
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO, INCLUDED<br />
|
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LUMBAR DISC DEGENERATION, SUSCEPTIBILITY TO, INCLUDED
|
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/1/847?start=-3&limit=10&highlight=847">
|
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1p21.1
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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{Lumbar disc herniation, susceptibility to}
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/603932"> 603932 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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COL11A1
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/120280"> 120280 </a>
|
|
</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/geneMap/6/1032?start=-3&limit=10&highlight=1032">
|
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6q27
|
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</a>
|
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</span>
|
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</td>
|
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<td>
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<p>Lumbar disc disease is caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants (<a href="#5" class="mim-tip-reference" title="Matsui, H., Kanamori, M., Ishihara, H., Yudoh, K., Naruse, Y., Tsuji, H. <strong>Familial predisposition for lumbar degenerative disc disease: a case-control study.</strong> Spine 23: 1029-1034, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9589542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9589542</a>] [<a href="https://doi.org/10.1097/00007632-199805010-00013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9589542">Matsui et al., 1998</a>; <a href="#2" class="mim-tip-reference" title="Battie, M. C., Haynor, D. R., Fisher, L. D., Gill, K., Gibbons, L. E., Videman, T. <strong>Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins.</strong> J. Bone Joint Surg. Am. 77: 1662-1670, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593075</a>] [<a href="https://doi.org/10.2106/00004623-199511000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593075">Battie et al., 1995</a>; <a href="#8" class="mim-tip-reference" title="Sambrook, P. N., MacGregor, A. J., Spector, T. D. <strong>Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins.</strong> Arthritis Rheum. 42: 366-372, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10025932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10025932</a>] [<a href="https://doi.org/10.1002/1529-0131(199902)42:2<366::AID-ANR20>3.0.CO;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10025932">Sambrook et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10025932+9589542+7593075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Sambrook, P. N., MacGregor, A. J., Spector, T. D. <strong>Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins.</strong> Arthritis Rheum. 42: 366-372, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10025932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10025932</a>] [<a href="https://doi.org/10.1002/1529-0131(199902)42:2<366::AID-ANR20>3.0.CO;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10025932">Sambrook et al. (1999)</a> compared MRI features of degenerative disc disease in the cervical and lumbar spine of 172 monozygotic and 154 dizygotic twins (mean age 51.7 and 54.4, respectively) who were unselected for back pain or disc disease. An overall score for disc degeneration was calculated as the sum of the grades for disc height, bulge, osteophytosis, and signal intensity at each level. A 'severe disease' score (excluding minor grades) and an 'extent of disease' score (number of levels affected) were also calculated. For the overall score, heritability was 74% at the lumbar spine and 73% at the cervical spine. For 'severe disease,' heritability was 64% and 79% at the lumbar and cervical spine, respectively, and for 'extent of disease,' heritability was 63% and 63%, respectively. These results were adjusted for age, weight, height, smoking, occupational manual work, and exercise. Examination of individual features showed that disc height and bulge were highly heritable at both sites, and osteophytes were heritable in the lumbar spine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10025932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Association with the COL9A2 Gene on Chromosome 1p34</em></strong></p><p>
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In a study that examined for allelic variation in the COL9A2 gene in Finnish individuals with sciatica and radiologically documented intervertebral disc disease, <a href="#1" class="mim-tip-reference" title="Annunen, S., Paassilta, P., Lohinlva, J., Perala, M., Pihlajamaa, T., Karppinen, J., Tervonen, O., Kroger, H., Lahde, S., Vanharanta, H., Ryhanen, L., Goring, H. H. H., Ott, J., Prockop, D. J., Ala-Kokko, L. <strong>An allele of COL9A2 associated with intervertebral disc disease.</strong> Science 285: 409-411, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10411504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10411504</a>] [<a href="https://doi.org/10.1126/science.285.5426.409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10411504">Annunen et al. (1999)</a> found a substitution of tryptophan for glutamine at codon 326 (<a href="/entry/120260#0004">120260.0004</a>). This change was found in 6 of 157 individuals with disc disease but in none of 174 controls. Further analysis of the families of 4 of the original patients revealed that all individuals heterozygous for the trp substitution demonstrated the disease phenotype. Many individuals within these families had IDD but not the trp allele. The authors invoked a high phenocopy rate to reconcile this observation with the conclusion that this sequence variant within COL9A2 contributes to the pathogenesis of disease. In the disease model chosen, this locus accounted for 10% of disease prevalence. Under these constraints, <a href="#1" class="mim-tip-reference" title="Annunen, S., Paassilta, P., Lohinlva, J., Perala, M., Pihlajamaa, T., Karppinen, J., Tervonen, O., Kroger, H., Lahde, S., Vanharanta, H., Ryhanen, L., Goring, H. H. H., Ott, J., Prockop, D. J., Ala-Kokko, L. <strong>An allele of COL9A2 associated with intervertebral disc disease.</strong> Science 285: 409-411, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10411504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10411504</a>] [<a href="https://doi.org/10.1126/science.285.5426.409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10411504">Annunen et al. (1999)</a> demonstrated a lod score of 4.5 at a recombination fraction of 0.12. Subsequent linkage disequilibrium analysis conditional on linkage gave an additional lod score of 7.1. The authors did not exclude the possibility that a true disease locus may lie in close physical proximity to COL9A2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10411504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with the COL11A1 Gene on Chromosome 1p21</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Mio, F., Chiba, K., Hirose, Y., Kawaguchi, Y., Mikami, Y., Oya, T., Mori, M., Kamata, M., Matsumoto, M., Ozaki, K., Tanaka, T., Takahashi, A., Kubo, T., Kimura, T., Toyama, Y., Ikegawa, S. <strong>A functional polymorphism in COL11A1, which encodes the alpha-1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.</strong> Am. J. Hum. Genet. 81: 1271-1277, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17999364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17999364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17999364[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/522377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17999364">Mio et al. (2007)</a> identified an association between a polymorphism of the COL11A1 gene (<a href="/entry/120280#0007">120280.0007</a>) and lumbar disc herniation in Japanese populations. Normally, the COL11A1 gene is highly expressed in the intervertebral disc; its expression was decreased in the intervertebral disc in patients with lumbar disc herniation, and the expression level was inversely correlated with the severity of disc degeneration. <a href="#6" class="mim-tip-reference" title="Mio, F., Chiba, K., Hirose, Y., Kawaguchi, Y., Mikami, Y., Oya, T., Mori, M., Kamata, M., Matsumoto, M., Ozaki, K., Tanaka, T., Takahashi, A., Kubo, T., Kimura, T., Toyama, Y., Ikegawa, S. <strong>A functional polymorphism in COL11A1, which encodes the alpha-1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.</strong> Am. J. Hum. Genet. 81: 1271-1277, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17999364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17999364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17999364[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/522377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17999364">Mio et al. (2007)</a> concluded that type XI collagen is critical for intervertebral disc metabolism and that its decrease is related to lumbar disc herniation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17999364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with the THBS2 Gene on Chromosome 6q27</em></strong></p><p>
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In an association study of 2 independent Japanese populations, involving a total of 847 patients with lumbar disc herniation (LDH) and 896 controls, <a href="#3" class="mim-tip-reference" title="Hirose, Y., Chiba, K., Karasugi, T., Nakajima, M., Kawaguchi, Y., Mikami, Y., Furuichi, T., Mio, F., Miyake, A., Miyamoto, T., Ozaki, K., Takahashi, A., Mizuta, H., Kubo, T., Kimura, T., Tanaka, T., Toyama, Y., Ikegawa, S. <strong>A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.</strong> Am. J. Hum. Genet. 82: 1122-1129, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18455130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18455130</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18455130[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18455130">Hirose et al. (2008)</a> found a significant association between an intronic SNP in the THBS2 gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs9406328;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs9406328</a>; <a href="/entry/188061#0001">188061.0001</a>) and LDH. A missense SNP in the MMP9 gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17576;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17576</a>) was also strongly associated with LDH in the Japanese population and showed a combinatorial effect with THBS2, with an odds ratio of 3.03 for the genotype that was homozygous for the susceptibility alleles of both SNPs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18455130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with the ASPN Gene on Chromosome 9q21.3-q22</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Song, Y.-Q., Cheung, K. M. C., Ho, D. W. H., Poon, S. C. S., Chiba, K., Kawaguchi, Y., Hirose, Y., Alini, M., Grad, S., Yee, A. F. Y., Leong, J. C. Y., Luk, K. D. K., Yip, S.-P., Karppinen, J., Cheah, K. S. E., Sham, P., Ikegawa, S., Chan, D. <strong>Association of the asporin D14 allele with lumbar-disc degeneration in Asians.</strong> Am. J. Hum. Genet. 82: 744-747, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18304494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18304494</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.12.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18304494">Song et al. (2008)</a> found an association of the D14 allele of the ASPN gene (<a href="/entry/608135#0001">608135.0001</a>) with lumbar disc degeneration in Chinese and Japanese individuals. The presence of this allele had previously been associated with susceptibility to knee osteoarthritis (<a href="/entry/165720">165720</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18304494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with the CILP Gene on Chromosome 15q22</em></strong></p><p>
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Using a case-control association study, <a href="#9" class="mim-tip-reference" title="Seki, S., Kawaguchi, Y., Chiba, K., Mikami, Y., Kizawa, H., Oya, T., Mio, F., Mori, M., Miyamoto, Y., Masuda, I., Tsunoda, T., Kamata, M., Kubo, T., Toyama, Y., Kimura, T., Nakamura, Y., Ikegawa, S. <strong>A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.</strong> Nature Genet. 37: 607-612, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864306</a>] [<a href="https://doi.org/10.1038/ng1557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15864306">Seki et al. (2005)</a> identified a functional SNP in the CILP gene (I395T; <a href="/entry/603489#0001">603489.0001</a>), which encodes the cartilage intermediate layer protein, that acts as a modulator of susceptibility to lumbar disc disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15864306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Virtanen, I. M., Song, Y. Q., Cheung, K. M. C., Ala-Kokko, L., Karppinen, J., Ho, D. W. H., Luk, K. D. K., Yip, S. P., Leong, J. C. Y., Cheah, K. S. E., Sham, P., Chan, D. <strong>Phenotypic and population differences in the association between CILP and lumbar disc disease. (Letter)</strong> J. Med. Genet. 44: 285-288, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17220213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17220213</a>] [<a href="https://doi.org/10.1136/jmg.2006.047076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17220213">Virtanen et al. (2007)</a> analyzed the I395T SNP and flanking SNPs in the CILP gene in 243 Finnish patients with symptoms of lumbar disc disease and 259 controls, and in 348 Chinese individuals with MRI-defined lumbar disc disease and 343 controls. The authors found no evidence of association in the Finnish or Chinese samples and suggested that the CILP gene is not a major risk factor for symptoms of lumbar disc disease in Caucasians or in the general population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17220213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with the AGC1 Gene on Chromosome 15q26</em></strong></p><p>
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In a study of 64 young Japanese women with or without low back problems, <a href="#4" class="mim-tip-reference" title="Kawaguchi, Y., Osada, R., Kanamori, M., Ishihara, H., Ohmori, K., Matsui, H., Kimura, T. <strong>Association between an aggrecan gene polymorphism and lumbar disc degeneration.</strong> Spine 24: 2456-2460, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10626307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10626307</a>] [<a href="https://doi.org/10.1097/00007632-199912010-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10626307">Kawaguchi et al. (1999)</a> demonstrated an association between lumbar disc degeneration and a shorter variable number of tandem repeat (VNTR) region in the chondroitin sulfate attachment domain of the AGC1 gene (<a href="/entry/155760">155760</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10626307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with the COL9A3 Gene on Chromosome 20q13</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Paassilta, P., Lohiniva, J., Goring, H. H. H., Perala, M., Raina, S. S., Karppinen, J., Hakala, M., Palm, T., Kroger, H., Kaitila, I., Vanharanta, H., Ott, J., Ala-Kokko, L. <strong>Identification of a novel common genetic risk factor for lumbar disk disease.</strong> JAMA 285: 1843-1849, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11308397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11308397</a>] [<a href="https://doi.org/10.1001/jama.285.14.1843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11308397">Paassilta et al. (2001)</a> demonstrated an association between a missense polymorphism in the COL9A3 gene (<a href="/entry/120270#0003">120270.0003</a>) and lumbar disc disease in Finnish patients, with an approximately 3-fold increased risk of disease with the so-called 'trp3' allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11308397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with the MMP9 Gene on Chromosome 20q11.2-q13.1</em></strong></p><p>
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In an association study of 2 independent Japanese populations involving a total of 847 patients with lumbar disc herniation and 896 controls, <a href="#3" class="mim-tip-reference" title="Hirose, Y., Chiba, K., Karasugi, T., Nakajima, M., Kawaguchi, Y., Mikami, Y., Furuichi, T., Mio, F., Miyake, A., Miyamoto, T., Ozaki, K., Takahashi, A., Mizuta, H., Kubo, T., Kimura, T., Tanaka, T., Toyama, Y., Ikegawa, S. <strong>A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.</strong> Am. J. Hum. Genet. 82: 1122-1129, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18455130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18455130</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18455130[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18455130">Hirose et al. (2008)</a> found a significant association (corrected p = 0.0083) between LDH and a gln279-to-arg (Q279R) polymorphism (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17576;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17576</a>) in the MMP9 gene, located within the highly conserved gelatinase-specific fibronectin type II domains. <a href="#3" class="mim-tip-reference" title="Hirose, Y., Chiba, K., Karasugi, T., Nakajima, M., Kawaguchi, Y., Mikami, Y., Furuichi, T., Mio, F., Miyake, A., Miyamoto, T., Ozaki, K., Takahashi, A., Mizuta, H., Kubo, T., Kimura, T., Tanaka, T., Toyama, Y., Ikegawa, S. <strong>A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.</strong> Am. J. Hum. Genet. 82: 1122-1129, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18455130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18455130</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18455130[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18455130">Hirose et al. (2008)</a> also found that an intronic SNP in the THBS2 gene (<a href="/entry/120361#0001">120361.0001</a>) was strongly associated with LDH in the Japanese population and resulted in decreased THBS2 interaction with MMP2 (<a href="/entry/120360">120360</a>) and MMP9. They demonstrated a combinatorial effect of MMP9 and THBS2 for LDH, with an odds ratio of 3.03 for the genotype that was homozygous for the susceptibility alleles (G and T, respectively) of both SNPs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18455130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Annunen, S., Paassilta, P., Lohinlva, J., Perala, M., Pihlajamaa, T., Karppinen, J., Tervonen, O., Kroger, H., Lahde, S., Vanharanta, H., Ryhanen, L., Goring, H. H. H., Ott, J., Prockop, D. J., Ala-Kokko, L.
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[<a href="https://doi.org/10.1126/science.285.5426.409" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.2106/00004623-199511000-00004" target="_blank">Full Text</a>]
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Hirose, Y., Chiba, K., Karasugi, T., Nakajima, M., Kawaguchi, Y., Mikami, Y., Furuichi, T., Mio, F., Miyake, A., Miyamoto, T., Ozaki, K., Takahashi, A., Mizuta, H., Kubo, T., Kimura, T., Tanaka, T., Toyama, Y., Ikegawa, S.
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<strong>A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.</strong>
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Am. J. Hum. Genet. 82: 1122-1129, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18455130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18455130</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18455130[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18455130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.03.013" target="_blank">Full Text</a>]
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Kawaguchi, Y., Osada, R., Kanamori, M., Ishihara, H., Ohmori, K., Matsui, H., Kimura, T.
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<strong>Association between an aggrecan gene polymorphism and lumbar disc degeneration.</strong>
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Spine 24: 2456-2460, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10626307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10626307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10626307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00007632-199912010-00006" target="_blank">Full Text</a>]
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Matsui, H., Kanamori, M., Ishihara, H., Yudoh, K., Naruse, Y., Tsuji, H.
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Spine 23: 1029-1034, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9589542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9589542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9589542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00007632-199805010-00013" target="_blank">Full Text</a>]
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Mio, F., Chiba, K., Hirose, Y., Kawaguchi, Y., Mikami, Y., Oya, T., Mori, M., Kamata, M., Matsumoto, M., Ozaki, K., Tanaka, T., Takahashi, A., Kubo, T., Kimura, T., Toyama, Y., Ikegawa, S.
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<strong>A functional polymorphism in COL11A1, which encodes the alpha-1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.</strong>
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Am. J. Hum. Genet. 81: 1271-1277, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17999364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17999364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17999364[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17999364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/522377" target="_blank">Full Text</a>]
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Paassilta2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Paassilta, P., Lohiniva, J., Goring, H. H. H., Perala, M., Raina, S. S., Karppinen, J., Hakala, M., Palm, T., Kroger, H., Kaitila, I., Vanharanta, H., Ott, J., Ala-Kokko, L.
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|
<strong>Identification of a novel common genetic risk factor for lumbar disk disease.</strong>
|
|
JAMA 285: 1843-1849, 2001.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11308397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11308397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11308397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/jama.285.14.1843" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Sambrook1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Sambrook, P. N., MacGregor, A. J., Spector, T. D.
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|
<strong>Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins.</strong>
|
|
Arthritis Rheum. 42: 366-372, 1999.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10025932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10025932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10025932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1529-0131(199902)42:2<366::AID-ANR20>3.0.CO;2-6" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Seki2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seki, S., Kawaguchi, Y., Chiba, K., Mikami, Y., Kizawa, H., Oya, T., Mio, F., Mori, M., Miyamoto, Y., Masuda, I., Tsunoda, T., Kamata, M., Kubo, T., Toyama, Y., Kimura, T., Nakamura, Y., Ikegawa, S.
|
|
<strong>A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.</strong>
|
|
Nature Genet. 37: 607-612, 2005.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15864306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1557" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Song2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Song, Y.-Q., Cheung, K. M. C., Ho, D. W. H., Poon, S. C. S., Chiba, K., Kawaguchi, Y., Hirose, Y., Alini, M., Grad, S., Yee, A. F. Y., Leong, J. C. Y., Luk, K. D. K., Yip, S.-P., Karppinen, J., Cheah, K. S. E., Sham, P., Ikegawa, S., Chan, D.
|
|
<strong>Association of the asporin D14 allele with lumbar-disc degeneration in Asians.</strong>
|
|
Am. J. Hum. Genet. 82: 744-747, 2008.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18304494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18304494</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18304494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2007.12.017" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Virtanen2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Virtanen, I. M., Song, Y. Q., Cheung, K. M. C., Ala-Kokko, L., Karppinen, J., Ho, D. W. H., Luk, K. D. K., Yip, S. P., Leong, J. C. Y., Cheah, K. S. E., Sham, P., Chan, D.
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|
<strong>Phenotypic and population differences in the association between CILP and lumbar disc disease. (Letter)</strong>
|
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J. Med. Genet. 44: 285-288, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17220213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17220213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17220213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2006.047076" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 6/10/2008
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/14/2008<br>Victor A. McKusick - updated : 11/28/2007<br>Marla J. F. O'Neill - updated : 6/5/2007<br>Victor A. McKusick - updated : 5/9/2005
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/23/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/20/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 07/13/2017<br>carol : 10/09/2009<br>terry : 6/3/2009<br>carol : 6/11/2008<br>terry : 6/10/2008<br>terry : 6/10/2008<br>alopez : 5/1/2008<br>terry : 4/14/2008<br>alopez : 12/3/2007<br>terry : 11/28/2007<br>terry : 9/14/2007<br>wwang : 6/8/2007<br>terry : 6/5/2007<br>wwang : 10/7/2005<br>wwang : 10/6/2005<br>terry : 9/19/2005<br>alopez : 6/13/2005<br>alopez : 5/10/2005<br>terry : 5/9/2005<br>cwells : 11/10/2003<br>cwells : 5/1/2002<br>carol : 11/4/1999<br>carol : 11/4/1999<br>carol : 6/23/1999<br>jlewis : 6/23/1999
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 603932
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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INTERVERTEBRAL DISC DISEASE; IDD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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LUMBAR DISC DISEASE, INCLUDED; LDD, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO, INCLUDED<br />
|
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LUMBAR DISC DEGENERATION, SUSCEPTIBILITY TO, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 36427004;
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<strong>ICD9CM:</strong> 722;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
1p21.1
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Lumbar disc herniation, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603932
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
COL11A1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
120280
|
|
</span>
|
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</td>
|
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</tr>
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|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
6q27
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
{Lumbar disc herniation, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603932
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
THBS2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
188061
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
9q22.31
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Lumbar disc degeneration}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603932
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ASPN
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
608135
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
15q22.31
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Lumbar disc disease, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603932
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CILP
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603489
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
20q13.33
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Intervertebral disc disease, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603932
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
COL9A3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
120270
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
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<p>A number sign (#) is used with this entry because of evidence that variations in many genes are involved in susceptibility to intervertebral disc disease. See MOLECULAR GENETICS section.</p>
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<strong>Description</strong>
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<p>Lumbar disc disease is caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants (Matsui et al., 1998; Battie et al., 1995; Sambrook et al., 1999). </p>
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<strong>Clinical Features</strong>
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<p>Sambrook et al. (1999) compared MRI features of degenerative disc disease in the cervical and lumbar spine of 172 monozygotic and 154 dizygotic twins (mean age 51.7 and 54.4, respectively) who were unselected for back pain or disc disease. An overall score for disc degeneration was calculated as the sum of the grades for disc height, bulge, osteophytosis, and signal intensity at each level. A 'severe disease' score (excluding minor grades) and an 'extent of disease' score (number of levels affected) were also calculated. For the overall score, heritability was 74% at the lumbar spine and 73% at the cervical spine. For 'severe disease,' heritability was 64% and 79% at the lumbar and cervical spine, respectively, and for 'extent of disease,' heritability was 63% and 63%, respectively. These results were adjusted for age, weight, height, smoking, occupational manual work, and exercise. Examination of individual features showed that disc height and bulge were highly heritable at both sites, and osteophytes were heritable in the lumbar spine. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Association with the COL9A2 Gene on Chromosome 1p34</em></strong></p><p>
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In a study that examined for allelic variation in the COL9A2 gene in Finnish individuals with sciatica and radiologically documented intervertebral disc disease, Annunen et al. (1999) found a substitution of tryptophan for glutamine at codon 326 (120260.0004). This change was found in 6 of 157 individuals with disc disease but in none of 174 controls. Further analysis of the families of 4 of the original patients revealed that all individuals heterozygous for the trp substitution demonstrated the disease phenotype. Many individuals within these families had IDD but not the trp allele. The authors invoked a high phenocopy rate to reconcile this observation with the conclusion that this sequence variant within COL9A2 contributes to the pathogenesis of disease. In the disease model chosen, this locus accounted for 10% of disease prevalence. Under these constraints, Annunen et al. (1999) demonstrated a lod score of 4.5 at a recombination fraction of 0.12. Subsequent linkage disequilibrium analysis conditional on linkage gave an additional lod score of 7.1. The authors did not exclude the possibility that a true disease locus may lie in close physical proximity to COL9A2. </p><p><strong><em>Association with the COL11A1 Gene on Chromosome 1p21</em></strong></p><p>
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Mio et al. (2007) identified an association between a polymorphism of the COL11A1 gene (120280.0007) and lumbar disc herniation in Japanese populations. Normally, the COL11A1 gene is highly expressed in the intervertebral disc; its expression was decreased in the intervertebral disc in patients with lumbar disc herniation, and the expression level was inversely correlated with the severity of disc degeneration. Mio et al. (2007) concluded that type XI collagen is critical for intervertebral disc metabolism and that its decrease is related to lumbar disc herniation. </p><p><strong><em>Association with the THBS2 Gene on Chromosome 6q27</em></strong></p><p>
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In an association study of 2 independent Japanese populations, involving a total of 847 patients with lumbar disc herniation (LDH) and 896 controls, Hirose et al. (2008) found a significant association between an intronic SNP in the THBS2 gene (rs9406328; 188061.0001) and LDH. A missense SNP in the MMP9 gene (rs17576) was also strongly associated with LDH in the Japanese population and showed a combinatorial effect with THBS2, with an odds ratio of 3.03 for the genotype that was homozygous for the susceptibility alleles of both SNPs. </p><p><strong><em>Association with the ASPN Gene on Chromosome 9q21.3-q22</em></strong></p><p>
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Song et al. (2008) found an association of the D14 allele of the ASPN gene (608135.0001) with lumbar disc degeneration in Chinese and Japanese individuals. The presence of this allele had previously been associated with susceptibility to knee osteoarthritis (165720). </p><p><strong><em>Association with the CILP Gene on Chromosome 15q22</em></strong></p><p>
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Using a case-control association study, Seki et al. (2005) identified a functional SNP in the CILP gene (I395T; 603489.0001), which encodes the cartilage intermediate layer protein, that acts as a modulator of susceptibility to lumbar disc disease. </p><p>Virtanen et al. (2007) analyzed the I395T SNP and flanking SNPs in the CILP gene in 243 Finnish patients with symptoms of lumbar disc disease and 259 controls, and in 348 Chinese individuals with MRI-defined lumbar disc disease and 343 controls. The authors found no evidence of association in the Finnish or Chinese samples and suggested that the CILP gene is not a major risk factor for symptoms of lumbar disc disease in Caucasians or in the general population. </p><p><strong><em>Association with the AGC1 Gene on Chromosome 15q26</em></strong></p><p>
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In a study of 64 young Japanese women with or without low back problems, Kawaguchi et al. (1999) demonstrated an association between lumbar disc degeneration and a shorter variable number of tandem repeat (VNTR) region in the chondroitin sulfate attachment domain of the AGC1 gene (155760). </p><p><strong><em>Association with the COL9A3 Gene on Chromosome 20q13</em></strong></p><p>
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Paassilta et al. (2001) demonstrated an association between a missense polymorphism in the COL9A3 gene (120270.0003) and lumbar disc disease in Finnish patients, with an approximately 3-fold increased risk of disease with the so-called 'trp3' allele. </p><p><strong><em>Association with the MMP9 Gene on Chromosome 20q11.2-q13.1</em></strong></p><p>
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In an association study of 2 independent Japanese populations involving a total of 847 patients with lumbar disc herniation and 896 controls, Hirose et al. (2008) found a significant association (corrected p = 0.0083) between LDH and a gln279-to-arg (Q279R) polymorphism (rs17576) in the MMP9 gene, located within the highly conserved gelatinase-specific fibronectin type II domains. Hirose et al. (2008) also found that an intronic SNP in the THBS2 gene (120361.0001) was strongly associated with LDH in the Japanese population and resulted in decreased THBS2 interaction with MMP2 (120360) and MMP9. They demonstrated a combinatorial effect of MMP9 and THBS2 for LDH, with an odds ratio of 3.03 for the genotype that was homozygous for the susceptibility alleles (G and T, respectively) of both SNPs. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Annunen, S., Paassilta, P., Lohinlva, J., Perala, M., Pihlajamaa, T., Karppinen, J., Tervonen, O., Kroger, H., Lahde, S., Vanharanta, H., Ryhanen, L., Goring, H. H. H., Ott, J., Prockop, D. J., Ala-Kokko, L.
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<strong>An allele of COL9A2 associated with intervertebral disc disease.</strong>
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Science 285: 409-411, 1999.
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[PubMed: 10411504]
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[Full Text: https://doi.org/10.1126/science.285.5426.409]
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Battie, M. C., Haynor, D. R., Fisher, L. D., Gill, K., Gibbons, L. E., Videman, T.
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<strong>Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins.</strong>
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J. Bone Joint Surg. Am. 77: 1662-1670, 1995.
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[PubMed: 7593075]
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[Full Text: https://doi.org/10.2106/00004623-199511000-00004]
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Hirose, Y., Chiba, K., Karasugi, T., Nakajima, M., Kawaguchi, Y., Mikami, Y., Furuichi, T., Mio, F., Miyake, A., Miyamoto, T., Ozaki, K., Takahashi, A., Mizuta, H., Kubo, T., Kimura, T., Tanaka, T., Toyama, Y., Ikegawa, S.
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<strong>A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.</strong>
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Am. J. Hum. Genet. 82: 1122-1129, 2008.
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[PubMed: 18455130]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.03.013]
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Kawaguchi, Y., Osada, R., Kanamori, M., Ishihara, H., Ohmori, K., Matsui, H., Kimura, T.
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<strong>Association between an aggrecan gene polymorphism and lumbar disc degeneration.</strong>
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Spine 24: 2456-2460, 1999.
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[PubMed: 10626307]
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[Full Text: https://doi.org/10.1097/00007632-199912010-00006]
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Matsui, H., Kanamori, M., Ishihara, H., Yudoh, K., Naruse, Y., Tsuji, H.
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<strong>Familial predisposition for lumbar degenerative disc disease: a case-control study.</strong>
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Spine 23: 1029-1034, 1998.
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[PubMed: 9589542]
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[Full Text: https://doi.org/10.1097/00007632-199805010-00013]
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Mio, F., Chiba, K., Hirose, Y., Kawaguchi, Y., Mikami, Y., Oya, T., Mori, M., Kamata, M., Matsumoto, M., Ozaki, K., Tanaka, T., Takahashi, A., Kubo, T., Kimura, T., Toyama, Y., Ikegawa, S.
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<strong>A functional polymorphism in COL11A1, which encodes the alpha-1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.</strong>
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Am. J. Hum. Genet. 81: 1271-1277, 2007.
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[PubMed: 17999364]
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[Full Text: https://doi.org/10.1086/522377]
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Paassilta, P., Lohiniva, J., Goring, H. H. H., Perala, M., Raina, S. S., Karppinen, J., Hakala, M., Palm, T., Kroger, H., Kaitila, I., Vanharanta, H., Ott, J., Ala-Kokko, L.
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<strong>Identification of a novel common genetic risk factor for lumbar disk disease.</strong>
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JAMA 285: 1843-1849, 2001.
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[PubMed: 11308397]
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[Full Text: https://doi.org/10.1001/jama.285.14.1843]
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Sambrook, P. N., MacGregor, A. J., Spector, T. D.
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<strong>Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins.</strong>
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Arthritis Rheum. 42: 366-372, 1999.
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[PubMed: 10025932]
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[Full Text: https://doi.org/10.1002/1529-0131(199902)42:2<366::AID-ANR20>3.0.CO;2-6]
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Seki, S., Kawaguchi, Y., Chiba, K., Mikami, Y., Kizawa, H., Oya, T., Mio, F., Mori, M., Miyamoto, Y., Masuda, I., Tsunoda, T., Kamata, M., Kubo, T., Toyama, Y., Kimura, T., Nakamura, Y., Ikegawa, S.
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<strong>A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.</strong>
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Nature Genet. 37: 607-612, 2005.
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[PubMed: 15864306]
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[Full Text: https://doi.org/10.1038/ng1557]
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Song, Y.-Q., Cheung, K. M. C., Ho, D. W. H., Poon, S. C. S., Chiba, K., Kawaguchi, Y., Hirose, Y., Alini, M., Grad, S., Yee, A. F. Y., Leong, J. C. Y., Luk, K. D. K., Yip, S.-P., Karppinen, J., Cheah, K. S. E., Sham, P., Ikegawa, S., Chan, D.
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<strong>Association of the asporin D14 allele with lumbar-disc degeneration in Asians.</strong>
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Am. J. Hum. Genet. 82: 744-747, 2008.
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[PubMed: 18304494]
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[Full Text: https://doi.org/10.1016/j.ajhg.2007.12.017]
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Virtanen, I. M., Song, Y. Q., Cheung, K. M. C., Ala-Kokko, L., Karppinen, J., Ho, D. W. H., Luk, K. D. K., Yip, S. P., Leong, J. C. Y., Cheah, K. S. E., Sham, P., Chan, D.
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<strong>Phenotypic and population differences in the association between CILP and lumbar disc disease. (Letter)</strong>
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J. Med. Genet. 44: 285-288, 2007.
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[PubMed: 17220213]
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[Full Text: https://doi.org/10.1136/jmg.2006.047076]
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Marla J. F. O'Neill - updated : 6/10/2008<br>Victor A. McKusick - updated : 4/14/2008<br>Victor A. McKusick - updated : 11/28/2007<br>Marla J. F. O'Neill - updated : 6/5/2007<br>Victor A. McKusick - updated : 5/9/2005
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To ensure long-term funding for the OMIM project, we have diversified
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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