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...

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Bibliographic Details
Published in:Journal of neuroimmunology 2015-05, Vol.282, p.85-91
Main Authors: Bashinskaya, V.V, Kulakova, O.G, Kiselev, I.S, Baulina, N.M, Favorov, A.V, Boyko, A.N, Tsareva, E.Yu, Favorova, O.O
Format: Article
Language:English
Subjects:
Adult
Aged
Allergy and Immunology
Disability Evaluation
Female
Genetic Predisposition to Disease - genetics
Genome-Wide Association Study
Genotype
GWAS validation
Humans
Interferon Regulatory Factors - genetics
Interleukin-2 Receptor alpha Subunit - genetics
Lectins, C-Type - genetics
Male
Middle Aged
Monosaccharide Transport Proteins - genetics
Multiple sclerosis
Multiple Sclerosis - genetics
Multiple Sclerosis - immunology
Neurology
Polymorphism, Single Nucleotide - genetics
Receptors, Tumor Necrosis Factor, Type I - genetics
Risk allele
Russia
Severity of Illness Index
Sex Factors
SNP
Susceptibility
Young Adult
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Summary: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.
ISSN:0165-5728
1872-8421
DOI:10.1016/j.jneuroim.2015.03.015