Association of BAFF gene polymorphisms with multiple sclerosis progression

• Main Authors: I. V. Smagina, S. A. Elchaninova, A. S. Palashchenko
• Format: Article
• Language: Russian
• Published: IMA-PRESS LLC 2020-02-01
• Series: Nevrologiâ, Nejropsihiatriâ, Psihosomatika
• Subjects: multiple sclerosis; b-cell activation factor; tnfsf13b; polymorphisms
• Online Access: https://nnp.ima-press.net/nnp/article/view/1256
• ISSN: 2074-2711; 2310-1342

The cytokine of the tumor necrosis factor (TNF) family B-cell activating factor (BAFF) (TNFSF13B) that regulates the proliferation, differentiation, and survival of B cells is assumed to be involved in the pathogenesis of multiple sclerosis (MS).Objective: to analyze the association of BAFF gene polymorphisms (rs1224141, rs9514827) with the progression rate and frequency of MS exacerbations.Patients and methods. A total of 100 Caucasian patients (24 males and 76 females) with relapsing-remitting MS, who were born and lived in the Altai Territory of the Russian Federation, were examined. Genotyping was performed by real-time polymerase chain reaction using competitive TaqMan probes. Results and discussion. The annual risk of a>0.75 point disability increase in the Expanded Disability Status Scale (EDSS) score was ascertained to be associated with the first remission duration of less than 2 years, with the G/G genotype of BAFF (rs1224141) in males and females, and with the C/C genotype of BAFF (rs9514827) in females. The likelihood of the first remission duration of less than 2 years was increased in female carriers of the G allele of BAFF (rs1224141). There was no association of BAFF gene polymorphisms (rs1224141, rs9514827) with the frequency of MS exacerbations.It seems promising to further study the role of BAFF in the pathogenesis of MS and the effect of this cytokine on the specific features of the course of the disease. The investigation results will be able to predict the efficiency of MS therapy with anti-BAFF drugs and to identify criteria for their individualized use.Conclusion. In patients with MS in the Altai Territory of the Russian Federation, the risk for a high MS progression rate is related to the carriage of BAFF genotypes with rare alleles in homozygous state: G/G polymorphism rs1224141, C/C polymorphism rs9514827 in combination with the female sex. The G allele of BAFF (rs1224141) in women is associated with the risk of the unfavorable prognostic duration of the first MS remission of less than 24 months.