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  • Title: GWAS-identified multiple sclerosis risk loci involved in immune response: validation in Russians.
    Author: Bashinskaya VV, Kulakova OG, Kiselev IS, Baulina NM, Favorov AV, Boyko AN, Tsareva EY, Favorova OO.
    Journal: J Neuroimmunol; 2015 May 15; 282():85-91. PubMed ID: 25903733.
    Abstract:
    Multiple sclerosis (MS) is a chronic neuro-inflammatory disease of complex etiology. The results of GWAS, a high-throughput method to discover genetic architecture of MS, require replication in independent ethnic groups. We performed a replication study of nine GWAS-identified SNPs in immune response in Russians. Associations of CLEC16A and IL2RA with MS were validated. Besides, we observed the associations of CLEC16A and IRF8 in women, and IL7RA and CD58 in men. With multi-locus association analysis two protective biallelic combinations: (TNFRSF1A*T+CLEC16A*A) and (TNFRSF1A*T+IRF8*A) were identified in women. Associations of CLEC16A*G/G and both biallelic combinations in women with MS survived the permutation test.
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