Genetics of multiple sclerosis
Abstract
Multiple sclerosis (MS) is probably aetiologically heterogeneous. Systematic genetic epidemiological and molecular genetic studies have provided important insights. Both genetic and non-genetic (environment, stochastic) factors may be involved in susceptibility as well as outcome, but we have yet to understand their relative roles. Any environmental factor is likely to be ubiquitous and act on a population-basis rather than within the family microenvironment. Taken together, the results of genome screening studies provide strong evidence for exclusion of a major locus in MS. There are, however, many genes that seem to be associated with MS. These include, but are in no way limited to, HLA classes I and II, T-cell receptor beta, CTLA4, ICAM1, and SH2D2A. The future of MS genetics, as for most common complex disorders, will be dependent on the resources available, ranging from biological samples and comprehensive databases of clinical and epidemiological information to the development of new technologies and statistical methods.
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Candidate gene studies in multiple sclerosis produced inconsistent findings.
“Candidate gene studies in cohorts of tens or hundreds of individuals at the loci encoding T‐cell receptor alpha12, 13 and beta14, 15 loci, the immunoglobulin heavy‐chain genes16, 17 and the gene for myelin basic protein,18, 19 among others, produced inconsistent findings.20, 21”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [20]
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References 128 · Cited by 563
- Authors
- Dyment, D. A., Ebers, G. C., & Dessa Sadovnick, A.
- Affiliations
- Centre for Human Genetics (GB)
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2004-02
- Volume
- 3
- Issue
- 2
- Pages
- 104-110
- ISSN
- 1474-4422 (ISSN-L)
- OpenAlex
- W2161929126
- Cited by
- 563
- References
- 128
- Citations by year
- 2026: 1 · 2025: 9 · 2024: 10 · 2023: 11 · 2022: 10 · 2021: 15 · 2020: 27 · 2019: 12 · 2018: 20 · 2017: 20 · 2016: 18 · 2015: 22 · 2014: 27 · 2013: 35 · 2012: 27
- FWCI
- 5.75
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Immunology and Microbiology › Immunology › Psoriasis: Treatment and Pathogenesis
- Keywords
- multiple sclerosis, genetic susceptibility, HLA class I and II, T cell receptor beta, CTLA-4, ICAM-1, environmental risk factors, disease outcome, genome-wide association study
- MeSH terms
- Antigens, Differentiation, Female, Humans, Genetic Linkage, Major Histocompatibility Complex, Male, Multiple Sclerosis, Risk Factors, Antigens, CD, Genes, T-Cell Receptor beta, Genetic Predisposition to Disease, CTLA-4 Antigen
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