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

Genes & Immunity volume 15, pages 466–476 (2014)Cite this article

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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.

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Acknowledgements

We thank Dr Jing Wang and Gary Artim for technical assistance. This study was supported through NIH R01NS049510, NIH R01AI076544 and NIH R01ES017080.

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Authors and Affiliations

  1. Division of Epidemiology, Genetic Epidemiology and Genomics Laboratory, School of Public Health, University of California, Berkeley, CA, USA

    F B S Briggs, L J Leung & L F Barcellos

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  1. F B S Briggs
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  2. L J Leung
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  3. L F Barcellos
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Correspondence to L F Barcellos.

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Briggs, F., Leung, L. & Barcellos, L. Annotation of functional variation within non-MHC MS susceptibility loci through bioinformatics analysis. Genes Immun 15, 466–476 (2014). https://doi.org/10.1038/gene.2014.37

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