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 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.
authors.affiliation: 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.
authors.forename: V V
authors.initials: VV
authors.lastname: Bashinskaya
authors.affiliation: 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.
authors.forename: O G
authors.initials: OG
authors.lastname: Kulakova
authors.affiliation: Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia.
authors.forename: I S
authors.initials: IS
authors.lastname: Kiselev
authors.affiliation: Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia.
authors.forename: N M
authors.initials: NM
authors.lastname: Baulina
authors.affiliation: 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.
authors.forename: A V
authors.initials: AV
authors.lastname: Favorov
authors.affiliation: Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia.
authors.forename: A N
authors.initials: AN
authors.lastname: Boyko
authors.affiliation: 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.
authors.forename: E Yu
authors.initials: EY
authors.lastname: Tsareva
authors.affiliation: 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.
authors.forename: O O
authors.initials: OO
authors.lastname: Favorova
mesh_terms: D000328:Adult; D000368:Aged; D004185:Disability Evaluation; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics; D037181:Lectins, C-Type / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics; D012426:Russia; D012720:Severity of Illness Index; D012737:Sex Factors; D055815:Young Adult; D000099185:Interferon Regulatory Factor-8
chemical_list: D050835:Interferon Regulatory Factors; D053645:Interleukin-2 Receptor alpha Subunit; D037181:Lectins, C-Type; D009004:Monosaccharide Transport Proteins; D047888:Receptors, Tumor Necrosis Factor, Type I; D000099185:Interferon Regulatory Factor-8; C522505:CLEC16A protein, human; C508017:IL2RA protein, human; C506235:TNFRSF1A protein, human
keywords: GWAS validation; Multiple sclerosis; Risk allele; SNP; Susceptibility