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

doi:10.1016/j.jneuroim.2015.03.015

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	85-91
Number of pages	7
Journal	Journal of Neuroimmunology
Volume	282
DOIs	https://doi.org/10.1016/j.jneuroim.2015.03.015
State	Published - May 15 2015

Keywords

GWAS validation
Multiple sclerosis
Risk allele
SNP
Susceptibility

ASJC Scopus subject areas

Immunology and Allergy
Immunology
Neurology
Clinical Neurology

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10.1016/j.jneuroim.2015.03.015

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title = "GWAS-identified multiple sclerosis risk loci involved in immune response: Validation in Russians",

abstract = "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.",

keywords = "GWAS validation, Multiple sclerosis, Risk allele, SNP, Susceptibility",

author = "Bashinskaya, {V. V.} and Kulakova, {O. G.} and Kiselev, {I. S.} and Baulina, {N. M.} and Favorov, {A. V.} and Boyko, {A. N.} and Tsareva, {E. Yu} and Favorova, {O. O.}",

note = "Funding Information: This study was supported by the Russian Scientific Foundation (grant 14-14-00605 ). Publisher Copyright: {\textcopyright} 2015 Elsevier B.V. Copyright: Copyright 2018 Elsevier B.V., All rights reserved.",

year = "2015",

month = may,

day = "15",

doi = "10.1016/j.jneuroim.2015.03.015",

language = "English (US)",

volume = "282",

pages = "85--91",

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T2 - Validation in Russians

AU - Bashinskaya, V. V.

AU - Kulakova, O. G.

AU - Kiselev, I. S.

AU - Baulina, N. M.

AU - Favorov, A. V.

AU - Boyko, A. N.

AU - Tsareva, E. Yu

AU - Favorova, O. O.

N1 - Funding Information: This study was supported by the Russian Scientific Foundation (grant 14-14-00605 ). Publisher Copyright: © 2015 Elsevier B.V. Copyright: Copyright 2018 Elsevier B.V., All rights reserved.

PY - 2015/5/15

Y1 - 2015/5/15

N2 - 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.

AB - 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.

KW - GWAS validation

KW - Multiple sclerosis

KW - Risk allele

KW - SNP

KW - Susceptibility

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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