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

Research paper by F B S FB Briggs, L J LJ Leung, L F LF Barcellos

Indexed on: 18 Jul '14Published on: 18 Jul '14Published in: Genes and Immunity



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.