INFLUENCE OF RS10965250 POLYMORPHISM OF THE CDKN2A GENE ON THE RISK OF TYPE 2 DIABETES DEVELOPMENT IN THE UZBEK POPULATION
Keywords:
CD2, Rs10965250, CDKN2A gene, uzbek populationAbstract
Relevance. Due to the fact that different geographical populations have differences in the distribution of genetic markers, it becomes interesting to study the effect of the rs10965250 polymorphism of the CDKN2A gene on the development of type 2 diabetes in people of the Uzbek population.
Purpose. To study the effect of the rs10965250 polymorphism of the CDKN2A gene on the development of type 2 DM in individuals of the Uzbek population.
Materials and methods. This study involved 185 people, of which 105 were patients with diagnosed DM2, receiving inpatient treatment at the clinic of the RSNPMC Endocrinology named after. acad. Y.Kh. Turakulova and 80 control healthy individuals of the Uzbek population. A QuantStudio 5 Applied Biosystems amplifier was used for PCR. The reaction was carried out in a volume of 10 µl using the TaqMan® Genotyping Assays kit (Thermo Fisher Scientific, USA) according to the manufacturer's standard protocol.
Results and their discussion. The study involved 185 individuals of the Uzbek population, of which 105 patients with DM2 and 80 controls free of DM2 at the time of the study were aged from 28 to 84 years (M = 57.09 ± 9.29), of which women 90 (48.6%) and men 95 (51.4%). The distribution of genotype frequencies in the control group corresponded to the Hardy-Weinberg distribution (p>0.05), while in the group of patients it did not (p<0.05). In the group of patients, the GG genotype was determined in 46% (n=48), the GA genotype was determined in 53% (n=56), and the AA genotype was determined in 1% (n=1). In the healthy group, GG genotype was detected in 50% (n=40), GA genotype was detected in 41% (n=33), and AA genotype was detected in 9% (n=1).
Conclusion. Thus, the polymorphic variant rs10965250 showed an effect on the development of DM2 in some populations. It is also likely that this polymorphic variant is a marker of other functional mutations in the CDKN2A gene or is in linkage disequilibrium with them. In addition, the effect of this variant can be modified by other genes or environmental factors [9].
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