ORIGINAL RESEARCH

Analysis of allelic CTLA4 gene polymorphism association with susceptibility to multiple sclerosis and its clinical features

Bashinskaya VV1, Kulakova OG1, Tsareva EYu1, Boyko AN2,3, Shcur SG3, Davydovskaya MV2, Khachanova NV2, Gusev EI2, Favorova OO1
About authors

1 Department of Molecular Biology and Medical Biotechnology, Biomedical Faculty,
Pirogov Russian National Research Medical University, Moscow, Russia

2 Department of Neurology, Neurosurgery and Medical Genetics, Medical Faculty,
Pirogov Russian National Research Medical University, Moscow, Russia

3 Moscow City Multiple Sclerosis Center, Moscow, Russia

ul. 3-ya Cherepkovskaya, d. 15a, Moscow, Russia, 121552; ur.xednay@4178anilativ

Received: 2012-07-09 Accepted: 2012-10-31 Published online: 2017-01-05
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We investigated whether single nucleotide polymorphism (SNP) 49A>G (rs231775) in CTLA4 gene was associated with multiple sclerosis (MS) susceptibility and MS clinical features, such as disease severity estimated by MSSS scale, onset symptoms and the duration of the first remission. DNA samples of 508 multiple sclerosis (MS) patients and 210 healthy individuals (all individuals were Russians by ethnicity) were analyzed. Genotyping was performed using PCR method with the analysis of restriction fragment length polymorphism. No association of SNP rs231775 with MS susceptibility was found. After stratification of patients according to their first remission duration reliable associations of G allele carriage with the short first remission (<1 year; p = 0.044, odds ratio = 1.5), and A/A genotype carriage with the long first remission (>1 year) were observed. No reliable associations of SNP rs231775 with MS severity or onset symptoms were revealed. Carriage of CTLA4*G allele may be used as the prognostic marker for evaluation of subsequent relapses frequency in MS patients.

Keywords: CTLA4, multiple sclerosis, allelic polymorphism, genetic susceptibility, clinical features

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