title: Annotation of functional variation within non-MHC MS susceptibility loci through bioinformatics analysis.
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.
authors.affiliation: Genetic Epidemiology and Genomics Laboratory, Division of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA.
authors.forename: F B S
authors.initials: FB
authors.lastname: Briggs
authors.affiliation: Genetic Epidemiology and Genomics Laboratory, Division of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA.
authors.forename: L J
authors.initials: LJ
authors.lastname: Leung
authors.affiliation: Genetic Epidemiology and Genomics Laboratory, Division of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA.
authors.forename: L F
authors.initials: LF
authors.lastname: Barcellos
mesh_terms: D016022:Case-Control Studies; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D016678:Genome; D006801:Humans; D015810:Linkage Disequilibrium; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide