Mitochondrial genome and risk of multiple sclerosis
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 t...
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| Language: | Russian |
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IMA-PRESS LLC
2019-11-01
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| Series: | Неврология, нейропсихиатрия, психосоматика |
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| Online Access: | https://nnp.ima-press.net/nnp/article/view/1171 |
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| author | A. N. Boyko M. S. Kozin G. Zh. Osmak O. G. Kulakova O. O. Favorova |
| author_facet | A. N. Boyko M. S. Kozin G. Zh. Osmak O. G. Kulakova O. O. Favorova |
| author_sort | A. N. Boyko |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-0ce80cee909d4ed28d771f7110420ed6 |
| institution | OA Journals |
| issn | 2074-2711 2310-1342 |
| language | Russian |
| publishDate | 2019-11-01 |
| publisher | IMA-PRESS LLC |
| record_format | Article |
| series | Неврология, нейропсихиатрия, психосоматика |
| spelling | doaj-art-0ce80cee909d4ed28d771f7110420ed62025-08-20T02:16:15ZrusIMA-PRESS LLCНеврология, нейропсихиатрия, психосоматика2074-27112310-13422019-11-01113434610.14412/2074-2711-2019-3-43-46888Mitochondrial genome and risk of multiple sclerosisA. N. Boyko0M. S. Kozin1G. Zh. Osmak2O. G. Kulakova3O. O. Favorova4N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; Federal Center of Cerebrovascular Disease and Stroke, Ministry of Health of RussiaN.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; Federal Center of Cerebrovascular Disease and Stroke, Ministry of Health of RussiaN.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; Federal Center of Cerebrovascular Disease and Stroke, Ministry of Health of RussiaN.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaN.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaMitochondrial 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.https://nnp.ima-press.net/nnp/article/view/1171multiple sclerosisgenetic predispositionrussiansmitochondriahaplogroupsingle-nucleotide polymorphism |
| spellingShingle | A. N. Boyko M. S. Kozin G. Zh. Osmak O. G. Kulakova O. O. Favorova Mitochondrial genome and risk of multiple sclerosis Неврология, нейропсихиатрия, психосоматика multiple sclerosis genetic predisposition russians mitochondria haplogroup single-nucleotide polymorphism |
| title | Mitochondrial genome and risk of multiple sclerosis |
| title_full | Mitochondrial genome and risk of multiple sclerosis |
| title_fullStr | Mitochondrial genome and risk of multiple sclerosis |
| title_full_unstemmed | Mitochondrial genome and risk of multiple sclerosis |
| title_short | Mitochondrial genome and risk of multiple sclerosis |
| title_sort | mitochondrial genome and risk of multiple sclerosis |
| topic | multiple sclerosis genetic predisposition russians mitochondria haplogroup single-nucleotide polymorphism |
| url | https://nnp.ima-press.net/nnp/article/view/1171 |
| work_keys_str_mv | AT anboyko mitochondrialgenomeandriskofmultiplesclerosis AT mskozin mitochondrialgenomeandriskofmultiplesclerosis AT gzhosmak mitochondrialgenomeandriskofmultiplesclerosis AT ogkulakova mitochondrialgenomeandriskofmultiplesclerosis AT oofavorova mitochondrialgenomeandriskofmultiplesclerosis |