[PP.30.07] THE ESSENTIAL HYPERTENSION AND GENETIC POOL IN UZBEK POPULATION

Objective: To study of familial character of essential hypertension (EH) and to evaluate the role of genetic pool.Design and method: The study included 100 healthy volunteers and 312 patients with I-II grade of EH. For linkage disequilibrium research, have been taken microsatellite SSR-markers. Results: We have studied genotype of 20 gene of cardiovascular continuum and identified 12 diagnostically significant genes. Registration of the genotyping results has identified an association SNP genes (ETA ENDRA T/T; ADDUCIN G/G; GNB3 C/C; ACE D/D; CYP11B2 T/T) with the risk of violations of water-salt metabolism, (PPR2Y P/P; ADRB3 T/T, AGTR1 A/A, AGTR2 G/G; B2-AR G/G) with the risk of metabolic syndrome, ENDOTHEL system genes (B2BKR +9–+9; eNOS; 4a/4b) with the risk of endothelial dysfunction. The heritage of hypertension in Uzbek population is estimated as: 17% of east, 33% of the western, 25% from the central Europe, 8% for Anatolia and 17% for Southeast Asia. In the analysis of mtDNA HVI region in patients with EH, we have identified six common point of nucleotide substitutions (H, T, X, I, V, 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 substitution in 16327 loci of HVI (OR-2,7; 95% CI-0,32–23,14). Detected N, R, J-superclusters in the Uzbek population date back to the alleged place of occurrence of the territories of South-East Asia and Western Europe. We calculated the genetic distance and determined that differences in the genome is 9–61% (Figure). We have determined that monogenic Western and hybrid Eastern population of Uzbekistan are often carriers of damaging DD -genotype of ACE gene localized in chromosome-17. Conclusions: The functional significance of 12 genes in Uzbek population with a combination of atherosclerosis and metabolic syndrome is similar 83% in most of European heritage type of hypertension. However, a distinctive sensitivity to the exchange of sodium in these individuals is due to 17% of the Asian contribution.

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