To study of familial character of essential hypertension (EH) and to evaluate the role of D-loop region of mtDNA.Design and method:
The study included 64 healthy volunteers and 106 patients with I-II grade of EH, all of them were Uzbek males in the mean age of 48.3 ± 8.1 years. Sequencing was performed on the sequencer «ABI PRISM 3100 DNA Sequencer».Results:
The sequencing of the nucleotide sequences revealed the most common mutations: 16126 T/C, 16129 G/A, 16189 T/C, 16223 C/T, 16298 T/C, 16327 C/T. In the analysis of mtDNA HVI region in patients with EH, we have identified six common point of nucleotide substitutions, of which 5 are most common in European populations (H, T, X, I, V) and a common mutation with the highest frequency in African populations (L3).Comparative analysis of HVI region of mtDNA and SNP C344T in hypertension candidate gene CYP11B2, showed a definite connection with carriage of “negative” TT genotype of CYP11B2 gene with substitutions in 16129, 16298 and 16327 loci of HVI.Conclusions:
A comparative analysis of the frequency of occurrence of mtDNA mutations in healthy subjects and patients with EH showed no statistically significant differences, however, observed an association with carriage of “negative” TT genotype of CYP11B2 gene and substitutions in 16129, 16298 and 16327 loci of HVI region of mtDNA. This fact suggests the possibility of the contribution of these mutations in development of the EH in Uzbek patients in continental specificity conditions.