OBJECTIVE:

It is known that type of mitochondrial haplogroup, based on the combination of inherited mtDNA mutations, may influence the progression of various multifactorial diseases. For example, belonging to haplogroup H is associated with early myocardial infarction in the population of Asturias (northern Spain). Aim of this study was to identify the relationship between the type of mitochondrial haplogroup and presence of subclinical atherosclerosis and hypertension in Russian population.

DESIGN AND METHOD:

A total of 80 persons from Moscow region (Russia) were included in the study. 45 study participants without CHD or myocardial infarction had ultrasonographically detected atherosclerotic lesions of the carotid arteries, others were controls without atherosclerosis. 32 patients had arterial hypertension. DNA was isolated from blood and the enrichment of mitochondrial DNA was performed. Detection of mtDNA haplogroups was made on the basis of Phylotree and MITOMAP databases and using Mitotool software on the data of mtDNA full sequences obtained by high-throughput sequencing of the mitochondrial genome using Roche 454 technology with GS Junior Titanium system. Statistical analysis was performed using IBM SPSS Statistics v.21.0 software.

RESULTS:

Mitochondrial haplogroups H, U, T and J were the most common in the observed sample (85.7% of cases), what corresponds to the general Russian population data. It was found that belonging to haplogroup H is associated with an increased risk of atherosclerosis (x2 = 3.97, p = 0.046; OR = 2.76, 95 % CI 1.01-7.58). 2706A and 7028C variants, that are markers of mitochondrial haplogroup H, were more common in atherosclerotic patients (p < 0.05), which proofs the role of this haplogroup as a marker for suspectability to atherosclerotic-related diseases. There were no statistically significant evidence that any other haplogroups are associated with atherosclerosis and hypertension in the observed sample.

CONCLUSIONS:

Results of our study based on NGS data showed that haplogroup H is associated with carotid subclinical atherosclerosis and not associated with hypertension in Russian population.