Annotation of functional variation within non-MHC MS susceptibility loci through bioinformatics analysis

Genes Immun. 2014 Oct;15(7):466-76. doi: 10.1038/gene.2014.37. Epub 2014 Jul 17.

Abstract

There is a strong and complex genetic component to multiple sclerosis (MS). In addition to variation in the major histocompatibility complex (MHC) region on chromosome 6p21.3, 110 non-MHC susceptibility variants have been identified in Northern Europeans, thus far. The majority of the MS-associated genes are immune related; however, similar to most other complex genetic diseases, the causal variants and biological processes underlying pathogenesis remain largely unknown. We created a comprehensive catalog of putative functional variants that reside within linkage disequilibrium regions of the MS-associated genic variants to guide future studies. Bioinformatics analyses were also conducted using publicly available resources to identify plausible pathological processes relevant to MS and functional hypotheses for established MS-associated variants.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Case-Control Studies
  • Genetic Loci*
  • Genetic Predisposition to Disease
  • Genome
  • Humans
  • Linkage Disequilibrium
  • Multiple Sclerosis / genetics*
  • Polymorphism, Single Nucleotide*