2658-6533Research Results in Biomedicine2658-653310.18413/2658-6533-2019-5-4-0-21834GeneticsAssociation of the mitochondrial DNA haplogroup H1 variants with the risk of acute cardiovascular eventsAssociation of the mitochondrial DNA haplogroup H1 variants with the risk of acute cardiovascular eventsGolubenkoMaria V.GolubenkoMaria V.maria.golubenko@medgenetics.ruBabushkinaNadezhda P.BabushkinaNadezhda P.nad.babushkina@medgenetics.ruZarubinAleksei A.ZarubinAleksei A.aleksei.zarubin@medgenetics.ruSalakhovRamil R.SalakhovRamil R.ramil.salakhov@medgenetics.ruMakeevaOksana A.MakeevaOksana A.oksana.makeeva@medgenetics.ruMarkovaValentina V.MarkovaValentina V.markovavalentinav@gmail.comAfanasievSergei A.AfanasievSergei A.tursky@cardio-tomsk.ruPonasenkoAnastasia V.PonasenkoAnastasia V.ponaav@kemcardio.ruPuzyrevValery P.PuzyrevValery P.p.valery@medgenetics.ru20195400

Background: Mitochondria play a major role in providing cells with energy, but at the same time they are a source of free radicals that increase oxidative stress. It is known that the mitochondrial DNA genotype can affect the efficiency of oxygen uptake and ATP synthesis. In previous studies, it was shown that haplogroup H1 mtDNA may be a risk factor for the development of life-threatening conditions in cardiovascular diseases. The aim of the study: To identify mtDNA variants of the haplogroup H1 affecting the risk of acute cardiovascular events. Materials and methods: The complete sequence of mtDNAs belonging to the H1 haplogroup was sequenced in two groups: (1) individuals who died of heart disease before the age of 55 years, or who had repeated myocardial infarction or heart failure progression within one year of follow-up after myocardial infarction; (2) individuals over 60 years without symptoms of cardiovascular disease, or sutviving to 90 years. MtDNA haplotypes were revealed and classified by belonging to H1 subhaplogroups. Median-joining network was constructed in the program Network v5.0. Results: 13 different H1 subhaplogroups were identified in the studied samples. In the group with acute cardiovascular events, the incidence of T16189C polymorphism was 18.75%, compared with a sample of long-livers and individuals without symptoms of cardiovascular disease (62.5%). The significance level for the two-sided Fisher's exact test was 0.029. There were no other statistically significant differences between the groups. Conclusion: The results suggest that in case of mtDNA haplogroup H1background, T16189C polymorphism can have a protective effect on the risk of life-threatening conditions in cardiovascular diseases.

Background: Mitochondria play a major role in providing cells with energy, but at the same time they are a source of free radicals that increase oxidative stress. It is known that the mitochondrial DNA genotype can affect the efficiency of oxygen uptake and ATP synthesis. In previous studies, it was shown that haplogroup H1 mtDNA may be a risk factor for the development of life-threatening conditions in cardiovascular diseases. The aim of the study: To identify mtDNA variants of the haplogroup H1 affecting the risk of acute cardiovascular events. Materials and methods: The complete sequence of mtDNAs belonging to the H1 haplogroup was sequenced in two groups: (1) individuals who died of heart disease before the age of 55 years, or who had repeated myocardial infarction or heart failure progression within one year of follow-up after myocardial infarction; (2) individuals over 60 years without symptoms of cardiovascular disease, or sutviving to 90 years. MtDNA haplotypes were revealed and classified by belonging to H1 subhaplogroups. Median-joining network was constructed in the program Network v5.0. Results: 13 different H1 subhaplogroups were identified in the studied samples. In the group with acute cardiovascular events, the incidence of T16189C polymorphism was 18.75%, compared with a sample of long-livers and individuals without symptoms of cardiovascular disease (62.5%). The significance level for the two-sided Fisher's exact test was 0.029. There were no other statistically significant differences between the groups. Conclusion: The results suggest that in case of mtDNA haplogroup H1background, T16189C polymorphism can have a protective effect on the risk of life-threatening conditions in cardiovascular diseases.

mitochondrial DNAcardiovascular diseasesgenetic polymorphismmitochondrial DNAcardiovascular diseasesgenetic polymorphism

The study was supported by the Complex Program for Basic Research of SB RAS, «Mitochondrial dysfunction and mitochondrial genome variability in the development of myocardial infarction and sudden cardiac death». For the study, the DNA samples from the collection «Biobank of Northern Eurasia population» were used. The study was performed using the equipment of  the Tomsk NRMC Center for the common use of scientific facilities «Medical Genomics».

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