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

Autor: Bashinskaya VV; Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia; Russian Cardiology Scientific and Production Center, 3-d Cherepkovskaya str, 15A, Moscow 121552 Russia. Electronic address: vitalina8714@yandex.ru., Kulakova OG; Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia; Russian Cardiology Scientific and Production Center, 3-d Cherepkovskaya str, 15A, Moscow 121552 Russia., Kiselev IS; Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia., Baulina NM; Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia., Favorov AV; Johns Hopkins School of Medicine, 550 North Broadway, Baltimore, MD 21205, USA; Vavilov Institute of General Genetics, Russian Academy of Sciences, Gubkina str. 3, 119333 Moscow, Russia., Boyko AN; Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia., Tsareva EY; Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia; Russian Cardiology Scientific and Production Center, 3-d Cherepkovskaya str, 15A, Moscow 121552 Russia., Favorova OO; Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia; Russian Cardiology Scientific and Production Center, 3-d Cherepkovskaya str, 15A, Moscow 121552 Russia.
Jazyk: angličtina
Zdroj: Journal of neuroimmunology [J Neuroimmunol] 2015 May 15; Vol. 282, pp. 85-91. Date of Electronic Publication: 2015 Mar 17.
DOI: 10.1016/j.jneuroim.2015.03.015
Abstrakt: 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.
(Copyright © 2015 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: