GWAS-identified multiple sclerosis risk loci involved in immune response: Validation in Russians

V. V. Bashinskaya, O. G. Kulakova, I. S. Kiselev, N. M. Baulina, A. V. Favorov, A. N. Boyko, E. Yu Tsareva, O. O. Favorova

Research output: Contribution to journalArticlepeer-review


Multiple sclerosis (MS) is a chronic neuro-inflammatory disease of complex etiology. The results of GWAS, a high-throughput method to discover genetic architectureof 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.

Original languageEnglish (US)
Pages (from-to)85-91
Number of pages7
JournalJournal of Neuroimmunology
StatePublished - May 15 2015


  • GWAS validation
  • Multiple sclerosis
  • Risk allele
  • SNP
  • Susceptibility

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Neurology
  • Clinical Neurology


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