Open AccessMitochondrial genome and risk of multiple sclerosis
Author(s) -
Alexey Boyko,
M. S. Kozin,
German Osmak,
О. Г. Кулакова,
О. О. Фаворова
Publication year - 2019
Publication title -
nevrologiâ, nejropsihiatriâ, psihosomatika
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.157
H-Index - 9
eISSN - 2310-1342
pISSN - 2074-2711
DOI - 10.14412/2074-2711-2019-3-43-46
Subject(s) - human mitochondrial dna haplogroup , haplogroup , odds ratio , multiple sclerosis , mitochondrial dna , confidence interval , medicine , population , allele , population stratification , case control study , allele frequency , disease , haplotype , genetics , biology , demography , genotype , single nucleotide polymorphism , immunology , gene , environmental health , sociology
Mitochondrial DNA (mtDNA) polymorphism makes a certain contribution to the formation of a genetic risk of multiple sclerosis (MS). Objective : to analyze the frequency of mtDNA variants in patients with MS and control individuals in the Russian population. A similar study was conducted for the first time. Patients and methods . The polymorphism of mtDNA was studied in the Russian population: in 283 unrelated patients with relapsing-remitting MS and in 290 unrelated healthy controls matched for gender and age. Results and discussion . The frequency of haplogroup J in the patients with MS was twice higher than that in the control group (p=0.0055) (odds ratio (OR) 2.00; 95% confidence interval (CI). 1.21–3.41). This association was mostly observed in women (p=0.0083) (OR 2.20; 95% CI, 1.19–4.03). There was also a significant association of the A allele of MT-ND5 (m. 13708G>A) with MS (p=0.03) (OR 1.89; 95% CI 1.11–3.32). Sex stratification showed that the association with MS was significant only in women (p=0.009; OR, 2.52; 95% CI, 1.29–5.14). Further investigations will aim to analyze mtDNA variability (at the level of individual polymorphisms, haplogroups, and whole genome) in patients with relapsing-remitting MS and in those with primary progressive MS versus healthy individuals and patients with relapsing-remitting MS according to disease severity. Conclusion . The data obtained in the Russian population suggest that mtDNA variations are involved in MS risk, to a greater extent in women.