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.
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