Abstract
A genetic component in the susceptibility to multiple sclerosis (MS) has long been known, and the first and major genetic risk factor, the HLA region, was identified in the 1970’s. However, only with the advent of genome-wide association studies in the past five years did the list of risk factors for MS grow from 1 to over 50. In this review, we summarize the search for MS risk genes and the latest results. Comparison with data from other autoimmune and neurological diseases and from animal models indicates parallels and differences between diseases. We discuss how these translate into an improved understanding of disease mechanisms, and address current challenges such as genotype-phenotype correlations, functional mechanisms of risk variants and the missing heritability.
Keywords: Multiple sclerosis, Genetics, Genome-wide association, Risk, Linkage, Single nucleotide polymorphism, HLA, demyelination, axonal loss, cosegregation, microsatellite maps.
Current Genomics
Title:Progress in Multiple Sclerosis Genetics
Volume: 13 Issue: 8
Author(s): An Goris, Ine Pauwels and Benedicte Dubois
Affiliation:
Keywords: Multiple sclerosis, Genetics, Genome-wide association, Risk, Linkage, Single nucleotide polymorphism, HLA, demyelination, axonal loss, cosegregation, microsatellite maps.
Abstract: A genetic component in the susceptibility to multiple sclerosis (MS) has long been known, and the first and major genetic risk factor, the HLA region, was identified in the 1970’s. However, only with the advent of genome-wide association studies in the past five years did the list of risk factors for MS grow from 1 to over 50. In this review, we summarize the search for MS risk genes and the latest results. Comparison with data from other autoimmune and neurological diseases and from animal models indicates parallels and differences between diseases. We discuss how these translate into an improved understanding of disease mechanisms, and address current challenges such as genotype-phenotype correlations, functional mechanisms of risk variants and the missing heritability.
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Cite this article as:
Goris An, Pauwels Ine and Dubois Benedicte, Progress in Multiple Sclerosis Genetics, Current Genomics 2012; 13 (8) . https://dx.doi.org/10.2174/138920212803759695
DOI https://dx.doi.org/10.2174/138920212803759695 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
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