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Multiple sclerosis, susceptibility to, 3(MS3)

MedGen UID:
390807
•Concept ID:
C2675477
•
Finding
Synonym: MS3
 
Monarch Initiative: MONDO:0012957
OMIM®: 612595

Definition

Multiple sclerosis-3 (MS3) is a chronic inflammatory disease of the central nervous system (CNS) characterized by multifocal demyelination (summary by Kallio et al., 2009). For a discussion of genetic heterogeneity of multiple sclerosis, see MS1 (126200). [from OMIM]

Term Hierarchy

Professional guidelines

PubMed

Multilocus evaluation of genetic predictors of multiple sclerosis.
Timasheva Y, Nasibullin TR, Tuktarova IA, Erdman VV, Galiullin TR, Zaplakhova OV, Bakhtiiarova KZ
Gene 2022 Jan 30;809:146008. Epub 2021 Oct 14 doi: 10.1016/j.gene.2021.146008. PMID: 34656742
Environmental factors and their interactions with risk genotypes in MS susceptibility.
Hedström AK, Alfredsson L, Olsson T
Curr Opin Neurol 2016 Jun;29(3):293-8. doi: 10.1097/WCO.0000000000000329. PMID: 27035899
Insulinoma of genetic aetiology.
Borson-Chazot F, Cardot-Bauters C, Mirallie É, Pattou F; French Endocrine Society
Ann Endocrinol (Paris) 2013 Jul;74(3):200-2. Epub 2013 Jun 13 doi: 10.1016/j.ando.2013.05.006. PMID: 23769271

Curated

UK NICE Guideline NG220, Multiple sclerosis in adults: management, 2022

Recent clinical studies

Etiology

Locus for severity implicates CNS resilience in progression of multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; MultipleMS Consortium
Nature 2023 Jul;619(7969):323-331. Epub 2023 Jun 28 doi: 10.1038/s41586-023-06250-x. PMID: 37380766Free PMC Article
Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans.
Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N; University of California San Francisco MS-EPIC Team, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR
Brain 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PMID: 35253861Free PMC Article
Paramagnetic Rim Lesions in Multiple Sclerosis: Comparison of Visualization at 1.5-T and 3-T MRI.
Hemond CC, Reich DS, Dundamadappa SK
AJR Am J Roentgenol 2022 Jul;219(1):120-131. Epub 2021 Dec 1 doi: 10.2214/AJR.21.26777. PMID: 34851712Free PMC Article
Association of Chronic Active Multiple Sclerosis Lesions With Disability In Vivo.
Absinta M, Sati P, Masuzzo F, Nair G, Sethi V, Kolb H, Ohayon J, Wu T, Cortese ICM, Reich DS
JAMA Neurol 2019 Dec 1;76(12):1474-1483. doi: 10.1001/jamaneurol.2019.2399. PMID: 31403674Free PMC Article
Multiple sclerosis 2001.
Poser CM, Brinar VV
Clin Neurol Neurosurg 2002 Jul;104(3):165-7. doi: 10.1016/s0303-8467(02)00032-x. PMID: 12127648

Diagnosis

ISG15 and ISGylation in Human Diseases.
Mirzalieva O, Juncker M, Schwartzenburg J, Desai S
Cells 2022 Feb 4;11(3) doi: 10.3390/cells11030538. PMID: 35159348Free PMC Article
Susceptibility-weighted Imaging: Technical Essentials and Clinical Neurologic Applications.
Haller S, Haacke EM, Thurnher MM, Barkhof F
Radiology 2021 Apr;299(1):3-26. Epub 2021 Feb 23 doi: 10.1148/radiol.2021203071. PMID: 33620291
Association of Chronic Active Multiple Sclerosis Lesions With Disability In Vivo.
Absinta M, Sati P, Masuzzo F, Nair G, Sethi V, Kolb H, Ohayon J, Wu T, Cortese ICM, Reich DS
JAMA Neurol 2019 Dec 1;76(12):1474-1483. doi: 10.1001/jamaneurol.2019.2399. PMID: 31403674Free PMC Article
Epstein-Barr virus and its association with disease - a review of relevance to general practice.
Fugl A, Andersen CL
BMC Fam Pract 2019 May 14;20(1):62. doi: 10.1186/s12875-019-0954-3. PMID: 31088382Free PMC Article
Multiple sclerosis: genetics, biomarkers, treatments.
Axisa PP, Hafler DA
Curr Opin Neurol 2016 Jun;29(3):345-53. doi: 10.1097/WCO.0000000000000319. PMID: 27058221Free PMC Article

Therapy

Locus for severity implicates CNS resilience in progression of multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; MultipleMS Consortium
Nature 2023 Jul;619(7969):323-331. Epub 2023 Jun 28 doi: 10.1038/s41586-023-06250-x. PMID: 37380766Free PMC Article
Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans.
Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N; University of California San Francisco MS-EPIC Team, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR
Brain 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PMID: 35253861Free PMC Article
Multiple sclerosis: genetics, biomarkers, treatments.
Axisa PP, Hafler DA
Curr Opin Neurol 2016 Jun;29(3):345-53. doi: 10.1097/WCO.0000000000000319. PMID: 27058221Free PMC Article
Multiple sclerosis and gender.
Darlington C
Curr Opin Investig Drugs 2002 Jun;3(6):911-4. PMID: 12137412
Multiple sclerosis 2001.
Poser CM, Brinar VV
Clin Neurol Neurosurg 2002 Jul;104(3):165-7. doi: 10.1016/s0303-8467(02)00032-x. PMID: 12127648

Prognosis

Immunosenescence and multiple sclerosis.
Adamczyk-Sowa M, Nowak-Kiczmer M, Jaroszewicz J, Berger T
Neurol Neurochir Pol 2022;56(3):220-227. Epub 2022 Jun 23 doi: 10.5603/PJNNS.a2022.0045. PMID: 35735245
ISG15 and ISGylation in Human Diseases.
Mirzalieva O, Juncker M, Schwartzenburg J, Desai S
Cells 2022 Feb 4;11(3) doi: 10.3390/cells11030538. PMID: 35159348Free PMC Article
Association of Chronic Active Multiple Sclerosis Lesions With Disability In Vivo.
Absinta M, Sati P, Masuzzo F, Nair G, Sethi V, Kolb H, Ohayon J, Wu T, Cortese ICM, Reich DS
JAMA Neurol 2019 Dec 1;76(12):1474-1483. doi: 10.1001/jamaneurol.2019.2399. PMID: 31403674Free PMC Article
Multiple sclerosis.
Miller E
Adv Exp Med Biol 2012;724:222-38. doi: 10.1007/978-1-4614-0653-2_17. PMID: 22411246
Multiple sclerosis 2001.
Poser CM, Brinar VV
Clin Neurol Neurosurg 2002 Jul;104(3):165-7. doi: 10.1016/s0303-8467(02)00032-x. PMID: 12127648

Clinical prediction guides

Locus for severity implicates CNS resilience in progression of multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; MultipleMS Consortium
Nature 2023 Jul;619(7969):323-331. Epub 2023 Jun 28 doi: 10.1038/s41586-023-06250-x. PMID: 37380766Free PMC Article
Relationship between paramagnetic rim lesions and slowly expanding lesions in multiple sclerosis.
Calvi A, Clarke MA, Prados F, Chard D, Ciccarelli O, Alberich M, Pareto D, Rodríguez Barranco M, Sastre-Garriga J, Tur C, Rovira A, Barkhof F
Mult Scler 2023 Mar;29(3):352-362. Epub 2022 Dec 14 doi: 10.1177/13524585221141964. PMID: 36515487Free PMC Article
Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans.
Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N; University of California San Francisco MS-EPIC Team, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR
Brain 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PMID: 35253861Free PMC Article
The Shared Mechanism and Candidate Drugs of Multiple Sclerosis and Sjögren's Syndrome Analyzed by Bioinformatics Based on GWAS and Transcriptome Data.
Hong X, Wang X, Rang X, Yin X, Zhang X, Wang R, Wang D, Zhao T, Fu J
Front Immunol 2022;13:857014. Epub 2022 Mar 9 doi: 10.3389/fimmu.2022.857014. PMID: 35356004Free PMC Article
Vitamin D Resistance as a Possible Cause of Autoimmune Diseases: A Hypothesis Confirmed by a Therapeutic High-Dose Vitamin D Protocol.
Lemke D, Klement RJ, Schweiger F, Schweiger B, Spitz J
Front Immunol 2021;12:655739. Epub 2021 Apr 7 doi: 10.3389/fimmu.2021.655739. PMID: 33897704Free PMC Article

Recent systematic reviews

The prevalence of paramagnetic rim lesions in multiple sclerosis: A systematic review and meta-analysis.
Ng Kee Kwong KC, Mollison D, Meijboom R, York EN, Kampaite A, Thrippleton MJ, Chandran S, Waldman AD
PLoS One 2021;16(9):e0256845. Epub 2021 Sep 8 doi: 10.1371/journal.pone.0256845. PMID: 34495999Free PMC Article
Vitamin D receptor genetic polymorphisms and the risk of multiple sclerosis: A systematic review and meta-analysis.
Mohammadi A, Azarnezhad A, Khanbabaei H, Izadpanah E, Abdollahzadeh R, Barreto GE, Sahebkar A
Steroids 2020 Jun;158:108615. Epub 2020 Feb 22 doi: 10.1016/j.steroids.2020.108615. PMID: 32097613
TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis.
Zhou SL, Tan CC, Hou XH, Cao XP, Tan L, Yu JT
J Alzheimers Dis 2019;68(3):1171-1184. doi: 10.3233/JAD-181038. PMID: 30883352
Association Between Multiple Sclerosis and Risk of Female Sexual Dysfunction: A Systematic Review and Meta-Analysis.
Zhao S, Wang J, Liu Y, Luo L, Zhu Z, Li E, Zhao Z
J Sex Med 2018 Dec;15(12):1716-1727. Epub 2018 Nov 2 doi: 10.1016/j.jsxm.2018.09.016. PMID: 30393105
Environmental risk factors and multiple sclerosis: an umbrella review of systematic reviews and meta-analyses.
Belbasis L, Bellou V, Evangelou E, Ioannidis JP, Tzoulaki I
Lancet Neurol 2015 Mar;14(3):263-73. Epub 2015 Feb 4 doi: 10.1016/S1474-4422(14)70267-4. PMID: 25662901

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG220, Multiple sclerosis in adults: management, 2022

    Consumer resources

    Reviews

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    • NCBI Bookshelf
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