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<meta name="keywords" content="C1856059, disease or syndrome, mthfr deficiency, thermolabile type, mthfr thermolabile polymorphism, mthfr thermolabile variant, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia). The MTHFR enzyme plays an important role in processing amino acids, specifically, the conversion of homocysteine to methionine. Genetic variations in the MTHFR gene can lead to impaired function or inactivation of this enzyme, which results in mildly elevated levels of homocysteine, especially in individuals who are also deficient in folate. In these individuals, a daily supplement of low dose folic acid may reduce and often normalize their homocysteine levels, but this has not been demonstrated to improve health outcomes. A common genetic variant in the MTHFR gene is a 677C>T polymorphism (NM_005957.4:c.665C>T, rs1801133). This variant encodes a thermolabile enzyme that is less active at higher temperatures. Individuals who carry two copies of this variant (“TT homozygous”) tend to have higher homocysteine levels and lower serum folate levels compared to controls. More than 25% of Hispanics and around 10-15% of North America Caucasians are estimated to be homozygous for the “thermolabile” variant (TT genotype). The TT genotype is least common in individuals of African descent (6%). Another common MTHFR variant, 1298A>C (NM_005957.4:c.1286A>C, rs1801131), does not cause increased homocysteine levels in heterozygous or homozygous individuals, but combined heterozygosity of 1298A>C and 677C>T results in an outcome similar to TT homozygous individuals. Until recently, it was thought that MTHFR deficiency, by causing elevated homocysteine levels, led to an increased risk of venous thrombosis, coronary heart disease, and recurrent pregnancy loss. However, more recent analysis has not found an association between elevated homocysteine levels and the risk of venous thrombosis or the risk of coronary heart disease. MTHFR polymorphism genotyping should not be ordered as part of the clinical evaluation for thrombophilia, recurrent pregnancy loss, or for at-risk family members. Rarely, more severe variants in the MTHFR gene can be a cause of an autosomal recessive inborn error or metabolism where extremely high levels of homocysteine accumulate in the urine and plasma. This can cause developmental delay, eye disorders, thrombosis, and osteoporosis. But more commonly, homocystinuria is caused by variants in a different gene (cystathionine beta-synthase, CBS)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=343468
|
||
ConceptID=C1856059
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">MTHFR THERMOLABILE POLYMORPHISM</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343468</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1856059</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>MTHFR DEFICIENCY, THERMOLABILE TYPE; MTHFR Thermolabile Variant</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/236250" target="_blank">236250</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia). The MTHFR enzyme plays an important role in processing amino acids, specifically, the conversion of homocysteine to methionine. Genetic variations in the MTHFR gene can lead to impaired function or inactivation of this enzyme, which results in mildly elevated levels of homocysteine, especially in individuals who are also deficient in folate. In these individuals, a daily supplement of low dose folic acid may reduce and often normalize their homocysteine levels, but this has not been demonstrated to improve health outcomes. A common genetic variant in the MTHFR gene is a 677C>T polymorphism (NM_005957.4:c.665C>T, rs1801133). This variant encodes a thermolabile enzyme that is less active at higher temperatures. Individuals who carry two copies of this variant (“TT homozygous”) tend to have higher homocysteine levels and lower serum folate levels compared to controls. More than 25% of Hispanics and around 10-15% of North America Caucasians are estimated to be homozygous for the “thermolabile” variant (TT genotype). The TT genotype is least common in individuals of African descent (6%). Another common MTHFR variant, 1298A>C (NM_005957.4:c.1286A>C, rs1801131), does not cause increased homocysteine levels in heterozygous or homozygous individuals, but combined heterozygosity of 1298A>C and 677C>T results in an outcome similar to TT homozygous individuals. Until recently, it was thought that MTHFR deficiency, by causing elevated homocysteine levels, led to an increased risk of venous thrombosis, coronary heart disease, and recurrent pregnancy loss. However, more recent analysis has not found an association between elevated homocysteine levels and the risk of venous thrombosis or the risk of coronary heart disease. MTHFR polymorphism genotyping should not be ordered as part of the clinical evaluation for thrombophilia, recurrent pregnancy loss, or for at-risk family members. Rarely, more severe variants in the MTHFR gene can be a cause of an autosomal recessive inborn error or metabolism where extremely high levels of homocysteine accumulate in the urine and plasma. This can cause developmental delay, eye disorders, thrombosis, and osteoporosis. But more commonly, homocystinuria is caused by variants in a different gene (cystathionine beta-synthase, CBS). [from <a title="Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/books/NBK61999" class="defSource" target="_blank">Medical Genetics Summaries</a>]</div>
|
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</div>
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|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3160733[DISCUI]&test_type=Clinical" ref="ncbi_uid=463623">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463623" target="_blank" href="/omim/176930">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1148/" ref="ncbi_uid=463623">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463623" ref="ncbi_uid=463623">V</a></span></span><span class="TLline"><a href="/medgen/463623" ref="tree=GTR&ncbi_uid=463623&link_uid=463623" title="View MedGen record for 'Thrombophilia due to thrombin defect'">Thrombophilia due to thrombin defect</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0272375[DISCUI]&test_type=Clinical" ref="ncbi_uid=75781">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75781" target="_blank" href="/omim/107300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75781" ref="ncbi_uid=75781">V</a></span></span><span class="TLline"><a href="/medgen/75781" ref="tree=GTR&ncbi_uid=75781&link_uid=75781" title="View MedGen record for 'Hereditary antithrombin deficiency'">Hereditary antithrombin deficiency</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1856059[DISCUI]&test_type=Clinical" ref="ncbi_uid=343468">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343468" target="_blank" href="/omim/236250">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343468" ref="ncbi_uid=343468">V</a></span></span><span class="TLline">MTHFR THERMOLABILE POLYMORPHISM</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1861171[DISCUI]&test_type=Clinical" ref="ncbi_uid=396074">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=396074" target="_blank" href="/omim/188055">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1368/" ref="ncbi_uid=396074">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=396074" ref="ncbi_uid=396074">V</a></span></span><span class="TLline"><a href="/medgen/396074" ref="tree=GTR&ncbi_uid=396074&link_uid=396074" title="View MedGen record for 'Thrombophilia due to activated protein C resistance'">Thrombophilia due to activated protein C resistance</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2674321[DISCUI]&test_type=Clinical" ref="ncbi_uid=436138">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436138" target="_blank" href="/omim/176860">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436138" ref="ncbi_uid=436138">V</a></span></span><span class="TLline"><a href="/medgen/436138" ref="tree=GTR&ncbi_uid=436138&link_uid=436138" title="View MedGen record for 'Thrombophilia due to protein C deficiency, autosomal dominant'">Thrombophilia due to protein C deficiency, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3278211[DISCUI]&test_type=Clinical" ref="ncbi_uid=479841">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=479841" target="_blank" href="/omim/176880">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=479841" ref="ncbi_uid=479841">V</a></span></span><span class="TLline"><a href="/medgen/479841" ref="tree=GTR&ncbi_uid=479841&link_uid=479841" title="View MedGen record for 'Thrombophilia due to protein S deficiency, autosomal dominant'">Thrombophilia due to protein S deficiency, autosomal dominant</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/463623" ref="tree=MeSH" title="MedGen record for Thrombophilia due to thrombin defect">Thrombophilia due to thrombin defect</a></span><ul><li><span class="matched_ds">MTHFR THERMOLABILE POLYMORPHISM</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16621645">The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parle-McDermott A,
|
||
Mills JL,
|
||
Molloy AM,
|
||
Carroll N,
|
||
Kirke PN,
|
||
Cox C,
|
||
Conley MR,
|
||
Pangilinan FJ,
|
||
Brody LC,
|
||
Scott JM</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2006 Jul;88(3):290-4.
|
||
Epub 2006 Apr 18
|
||
doi: 10.1016/j.ymgme.2006.02.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16621645" target="_blank">16621645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16317155">Interaction among folate, riboflavin, genotype, and cancer, with reference to colorectal and cervical cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Powers HJ</span><br />
|
||
<span class="medgenPMjournal">J Nutr</span>
|
||
2005 Dec;135(12 Suppl):2960S-2966S.
|
||
doi: 10.1093/jn/135.12.2960S.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16317155" target="_blank">16317155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10517251">Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Speer MC,
|
||
Nye J,
|
||
McLone D,
|
||
Worley G,
|
||
Melvin EC,
|
||
Viles KD,
|
||
Franklin A,
|
||
Drake C,
|
||
Mackey J,
|
||
George TM</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1999 Aug;56(2):142-4.
|
||
doi: 10.1034/j.1399-0004.1999.560208.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10517251" target="_blank">10517251</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mthfr%20thermolabile%20polymorphism)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (11)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23900311">Interaction between the MTHFR C677T polymorphism and traumatic childhood events predicts depression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lok A,
|
||
Bockting CL,
|
||
Koeter MW,
|
||
Snieder H,
|
||
Assies J,
|
||
Mocking RJ,
|
||
Vinkers CH,
|
||
Kahn RS,
|
||
Boks MP,
|
||
Schene AH</span><br />
|
||
<span class="medgenPMjournal">Transl Psychiatry</span>
|
||
2013 Jul 30;3(7):e288.
|
||
doi: 10.1038/tp.2013.60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23900311" target="_blank">23900311</a><a href="/pmc/articles/PMC3731792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16621645">The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parle-McDermott A,
|
||
Mills JL,
|
||
Molloy AM,
|
||
Carroll N,
|
||
Kirke PN,
|
||
Cox C,
|
||
Conley MR,
|
||
Pangilinan FJ,
|
||
Brody LC,
|
||
Scott JM</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2006 Jul;88(3):290-4.
|
||
Epub 2006 Apr 18
|
||
doi: 10.1016/j.ymgme.2006.02.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16621645" target="_blank">16621645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16402130">The thermolabile variant of MTHFR is associated with depression in the British Women's Heart and Health Study and a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewis SJ,
|
||
Lawlor DA,
|
||
Davey Smith G,
|
||
Araya R,
|
||
Timpson N,
|
||
Day IN,
|
||
Ebrahim S</span><br />
|
||
<span class="medgenPMjournal">Mol Psychiatry</span>
|
||
2006 Apr;11(4):352-60.
|
||
doi: 10.1038/sj.mp.4001790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16402130" target="_blank">16402130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11528369">Relevance of folate metabolism in the pathogenesis of colorectal cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryan BM,
|
||
Weir DG</span><br />
|
||
<span class="medgenPMjournal">J Lab Clin Med</span>
|
||
2001 Sep;138(3):164-76.
|
||
doi: 10.1067/mlc.2001.117161.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11528369" target="_blank">11528369</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10376845">Homocysteine, hypertension and stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry IJ</span><br />
|
||
<span class="medgenPMjournal">J Hum Hypertens</span>
|
||
1999 May;13(5):289-93.
|
||
doi: 10.1038/sj.jhh.1000803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10376845" target="_blank">10376845</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MTHFR%20THERMOLABILE%20POLYMORPHISM%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (115)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31831825">Thrombophilic risk factors for retinal vein occlusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vieira MJ,
|
||
Campos A,
|
||
do Carmo A,
|
||
Arruda H,
|
||
Martins J,
|
||
Sousa JP</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Dec 12;9(1):18972.
|
||
doi: 10.1038/s41598-019-55456-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31831825" target="_blank">31831825</a><a href="/pmc/articles/PMC6908668" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23915182">Effects of MTHFR gene polymorphism on the clinical and electrophysiological characteristics of migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azimova JE,
|
||
Sergeev AV,
|
||
Korobeynikova LA,
|
||
Kondratieva NS,
|
||
Kokaeva ZG,
|
||
Shaikhaev GO,
|
||
Skorobogatykh KV,
|
||
Fokina NM,
|
||
Tabeeva GR,
|
||
Klimov EA</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2013 Aug 5;13:103.
|
||
doi: 10.1186/1471-2377-13-103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23915182" target="_blank">23915182</a><a href="/pmc/articles/PMC3750291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19484352">MTHFR (methylenetetrahydrofolate reductase) C677T polymorphism and psoriasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasku V,
|
||
Bienertova-Vasku J,
|
||
Necas M,
|
||
Vasku A</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Med</span>
|
||
2009 Dec;9(4):327-31.
|
||
Epub 2009 May 30
|
||
doi: 10.1007/s10238-009-0054-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19484352" target="_blank">19484352</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16402130">The thermolabile variant of MTHFR is associated with depression in the British Women's Heart and Health Study and a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewis SJ,
|
||
Lawlor DA,
|
||
Davey Smith G,
|
||
Araya R,
|
||
Timpson N,
|
||
Day IN,
|
||
Ebrahim S</span><br />
|
||
<span class="medgenPMjournal">Mol Psychiatry</span>
|
||
2006 Apr;11(4):352-60.
|
||
doi: 10.1038/sj.mp.4001790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16402130" target="_blank">16402130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10739378">Inherited thrombophilia as a risk factor for the development of ischemic stroke in young adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voetsch B,
|
||
Damasceno BP,
|
||
Camargo EC,
|
||
Massaro A,
|
||
Bacheschi LA,
|
||
Scaff M,
|
||
Annichino-Bizzacchi JM,
|
||
Arruda VR</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2000 Feb;83(2):229-33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10739378" target="_blank">10739378</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MTHFR%20THERMOLABILE%20POLYMORPHISM%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25428529">Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism, and risk of retinal vein occlusion: an updated meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Zhou M,
|
||
Peng X,
|
||
Sun H</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2014 Nov 27;14:147.
|
||
doi: 10.1186/1471-2415-14-147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25428529" target="_blank">25428529</a><a href="/pmc/articles/PMC4255450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23900311">Interaction between the MTHFR C677T polymorphism and traumatic childhood events predicts depression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lok A,
|
||
Bockting CL,
|
||
Koeter MW,
|
||
Snieder H,
|
||
Assies J,
|
||
Mocking RJ,
|
||
Vinkers CH,
|
||
Kahn RS,
|
||
Boks MP,
|
||
Schene AH</span><br />
|
||
<span class="medgenPMjournal">Transl Psychiatry</span>
|
||
2013 Jul 30;3(7):e288.
|
||
doi: 10.1038/tp.2013.60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23900311" target="_blank">23900311</a><a href="/pmc/articles/PMC3731792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11528369">Relevance of folate metabolism in the pathogenesis of colorectal cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryan BM,
|
||
Weir DG</span><br />
|
||
<span class="medgenPMjournal">J Lab Clin Med</span>
|
||
2001 Sep;138(3):164-76.
|
||
doi: 10.1067/mlc.2001.117161.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11528369" target="_blank">11528369</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10376845">Homocysteine, hypertension and stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry IJ</span><br />
|
||
<span class="medgenPMjournal">J Hum Hypertens</span>
|
||
1999 May;13(5):289-93.
|
||
doi: 10.1038/sj.jhh.1000803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10376845" target="_blank">10376845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9667396">Folic acid for the prevention of congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hall J,
|
||
Solehdin F</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1998 Jun;157(6):445-50.
|
||
doi: 10.1007/s004310050850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9667396" target="_blank">9667396</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MTHFR%20THERMOLABILE%20POLYMORPHISM%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31831825">Thrombophilic risk factors for retinal vein occlusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vieira MJ,
|
||
Campos A,
|
||
do Carmo A,
|
||
Arruda H,
|
||
Martins J,
|
||
Sousa JP</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Dec 12;9(1):18972.
|
||
doi: 10.1038/s41598-019-55456-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31831825" target="_blank">31831825</a><a href="/pmc/articles/PMC6908668" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24488901">Non-alcoholic fatty liver disease (NAFLD) and MTHFR 1298A > C gene polymorphism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Catalano D,
|
||
Trovato GM,
|
||
Ragusa A,
|
||
Martines GF,
|
||
Tonzuso A,
|
||
Pirri C,
|
||
Buccheri MA,
|
||
Trovato FM</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2014;18(2):151-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24488901" target="_blank">24488901</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23900311">Interaction between the MTHFR C677T polymorphism and traumatic childhood events predicts depression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lok A,
|
||
Bockting CL,
|
||
Koeter MW,
|
||
Snieder H,
|
||
Assies J,
|
||
Mocking RJ,
|
||
Vinkers CH,
|
||
Kahn RS,
|
||
Boks MP,
|
||
Schene AH</span><br />
|
||
<span class="medgenPMjournal">Transl Psychiatry</span>
|
||
2013 Jul 30;3(7):e288.
|
||
doi: 10.1038/tp.2013.60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23900311" target="_blank">23900311</a><a href="/pmc/articles/PMC3731792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10486408">Thermolabile methylenetetrahydrofolate reductase gene and the risk of cognitive impairment in those over 85.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gussekloo J,
|
||
Heijmans BT,
|
||
Slagboom PE,
|
||
Lagaay AM,
|
||
Knook DL,
|
||
Westendorp RG</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1999 Oct;67(4):535-8.
|
||
doi: 10.1136/jnnp.67.4.535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10486408" target="_blank">10486408</a><a href="/pmc/articles/PMC1736557" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10376845">Homocysteine, hypertension and stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry IJ</span><br />
|
||
<span class="medgenPMjournal">J Hum Hypertens</span>
|
||
1999 May;13(5):289-93.
|
||
doi: 10.1038/sj.jhh.1000803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10376845" target="_blank">10376845</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MTHFR%20THERMOLABILE%20POLYMORPHISM%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24488901">Non-alcoholic fatty liver disease (NAFLD) and MTHFR 1298A > C gene polymorphism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Catalano D,
|
||
Trovato GM,
|
||
Ragusa A,
|
||
Martines GF,
|
||
Tonzuso A,
|
||
Pirri C,
|
||
Buccheri MA,
|
||
Trovato FM</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2014;18(2):151-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24488901" target="_blank">24488901</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23915182">Effects of MTHFR gene polymorphism on the clinical and electrophysiological characteristics of migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azimova JE,
|
||
Sergeev AV,
|
||
Korobeynikova LA,
|
||
Kondratieva NS,
|
||
Kokaeva ZG,
|
||
Shaikhaev GO,
|
||
Skorobogatykh KV,
|
||
Fokina NM,
|
||
Tabeeva GR,
|
||
Klimov EA</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2013 Aug 5;13:103.
|
||
doi: 10.1186/1471-2377-13-103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23915182" target="_blank">23915182</a><a href="/pmc/articles/PMC3750291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23900311">Interaction between the MTHFR C677T polymorphism and traumatic childhood events predicts depression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lok A,
|
||
Bockting CL,
|
||
Koeter MW,
|
||
Snieder H,
|
||
Assies J,
|
||
Mocking RJ,
|
||
Vinkers CH,
|
||
Kahn RS,
|
||
Boks MP,
|
||
Schene AH</span><br />
|
||
<span class="medgenPMjournal">Transl Psychiatry</span>
|
||
2013 Jul 30;3(7):e288.
|
||
doi: 10.1038/tp.2013.60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23900311" target="_blank">23900311</a><a href="/pmc/articles/PMC3731792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16402130">The thermolabile variant of MTHFR is associated with depression in the British Women's Heart and Health Study and a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewis SJ,
|
||
Lawlor DA,
|
||
Davey Smith G,
|
||
Araya R,
|
||
Timpson N,
|
||
Day IN,
|
||
Ebrahim S</span><br />
|
||
<span class="medgenPMjournal">Mol Psychiatry</span>
|
||
2006 Apr;11(4):352-60.
|
||
doi: 10.1038/sj.mp.4001790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16402130" target="_blank">16402130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10376845">Homocysteine, hypertension and stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry IJ</span><br />
|
||
<span class="medgenPMjournal">J Hum Hypertens</span>
|
||
1999 May;13(5):289-93.
|
||
doi: 10.1038/sj.jhh.1000803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10376845" target="_blank">10376845</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MTHFR%20THERMOLABILE%20POLYMORPHISM%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (42)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/25428529">Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism, and risk of retinal vein occlusion: an updated meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Zhou M,
|
||
Peng X,
|
||
Sun H</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2014 Nov 27;14:147.
|
||
doi: 10.1186/1471-2415-14-147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25428529" target="_blank">25428529</a><a href="/pmc/articles/PMC4255450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16402130">The thermolabile variant of MTHFR is associated with depression in the British Women's Heart and Health Study and a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewis SJ,
|
||
Lawlor DA,
|
||
Davey Smith G,
|
||
Araya R,
|
||
Timpson N,
|
||
Day IN,
|
||
Ebrahim S</span><br />
|
||
<span class="medgenPMjournal">Mol Psychiatry</span>
|
||
2006 Apr;11(4):352-60.
|
||
doi: 10.1038/sj.mp.4001790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16402130" target="_blank">16402130</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MTHFR%20THERMOLABILE%20POLYMORPHISM%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1856059%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1856059%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (24)</a></li>
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||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1856059%5bDISCUI%5d" target="_blank">See all (27)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=MTHFR%20THERMOLABILE%20POLYMORPHISM" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mthfr%20thermolabile%20polymorphism)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/homocystinuria_due_to_deficiency_of_n_methylenetetrahydrofolate_reductase_activity" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=MTHFR%20THERMOLABILE%20POLYMORPHISM" target="_blank">MedlinePlus</a></li></ul></div>
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<ul>
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<li>
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<a href="/books/NBK66131" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank">Medical Genetics Summaries</a>
|
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</li>
|
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<li>
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||
<a href="/pubmed/clinical?term=MTHFR%20THERMOLABILE%20POLYMORPHISM" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=MTHFR%20THERMOLABILE%20POLYMORPHISM%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=343468" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1856059[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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||
</li>
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||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1856059[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=343468" ref="log$=recordlinks">MeSH</a>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=343468" ref="log$=recordlinks">NCBI Bookshelf</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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