Ра спределение 2043 C/A полиморфизма гена рецептора липопротеидов низкой плотности у больных семейной гетерозиготной гиперхолестеринемией в узбекской попу ляции

Objective: to evaluate the effect of the 2043 C / A polymorphism of the low-density lipoprotein receptor gene on lipid metabolism in patients with familial hypercholesterolemia of the Uzbek population. Materials and methods. The main group (1st group FH) consisted of 50 patients with FH (age 49,1 ± 10,4 years of both sexes, 42 % of men). The comparison group (2nd group) consisted of 145 patients with an excluded diagnosis of FH (non-FH) (age 61,1 ± 10,0 years, 50,3 % of men). The diagnosis of FH was established on the basis of the following criteria: total cholesterol level is more than 8,5 mmol/l, the presence of tendon xanthomas in the subject or in relatives of the first degree of relationship. The exclusion criterion was an increase in serum triglycerides ≥4,5 mmol/l. The analysis of laboratory parameters (lipid spectrum, glucose, glycated hemoglobin, etc.) and data of instrumental studies (electrocardiography, echocardiography, duplex scanning of the brachiocephalic arteries) were carried out. A genetic study of the 2043 C/A polymorphism of the low-density lipoprotein receptor gene was performed in 195 patients. Results. The comparative analysis of the distribution of genotype frequencies revealed that in the group of patients with FH the A/A of 2043 C/A genotype of the LDLr gene polymorphism was more common (5 patients – 10 %) than in the group with non-FH (8 patients – 5,5 %), however, the differences were not significant (P>0,05). In the distribution of frequencies of other genotypes and alleles of the polymorphic marker 2043 C/A of the polymorphism of the LDLr gene in the groups with FH and non-FH there was no significant difference in the Uzbek population. When comparing lipid indices, it was found that in the group of patients with FH the carriers of allele A had higher levels of TCh, TG and LDL (367,4 ± 102,1 mg/dl, 336,8 ± 447,5 mg/ dl and 230,9 ± 56,5 mg/dl, respectively), whereas in patients without a carrier of allele A these indicators were lower (347,7 ± 164,5 mg/dl, 302,3 ± 297,8 mg/dl and 221,9 ± 88,3 mg/dl, respectively), but the difference was not significant. Conclusion. It is necessary to continue the study of other polymorphic variants of the low-density lipoprotein receptor gene, apolipoprotein B and PCSK9 to determine their mutual influence on the development of familial hypercholesterolemia in the Uzbek population.