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  • 23 - 11 (73) 2024 - Sadirova S.S., Irgasheva S.U. - PREVALENCE OF ALLELIC AND GENOTYPIC VARIANTS OF THE CYP17A1 RS743572 GENE POLYMORPHISM IN WOMEN WITH PCOS IN THE UZBEK POPULATION

23 - 11 (73) 2024 - Sadirova S.S., Irgasheva S.U. - PREVALENCE OF ALLELIC AND GENOTYPIC VARIANTS OF THE CYP17A1 RS743572 GENE POLYMORPHISM IN WOMEN WITH PCOS IN THE UZBEK POPULATION

PREVALENCE OF ALLELIC AND GENOTYPIC VARIANTS OF THE CYP17A1 RS743572 GENE POLYMORPHISM IN WOMEN WITH PCOS IN THE UZBEK POPULATION

Sadirova S.S. - Republican Specialized Scientific and Practical Medical Center for "Maternal and Child Health" state institution

Irgasheva S.U. - Republican Specialized Scientific and Practical Medical Center for "Maternal and Child Health" state institution

Boboev K.T. - State Institution "Republican Specialized Hematology Scientific and Practical Medical Center."

Resume

Polycystic ovary syndrome is a common, polygenic-complex endocrinopathy and one of the main causes of female infertility. In recent years, there has been a tendency to increase the frequency of this pathology in the context of menstrual cycle and reproductive function disorders. Purpose of the study: to assess the prevalence of alleles and genotypes of the CYP17A1 gene polymorphism (rs 743572) in Uzbek women of reproductive age with polycystic ovary syndrome. Materials and methods. Association analysis of the CYP17A1 gene polymorphism was carried out using the case-control model (case-control, comparison of two samples). The aim of our study was to determine the polymorphic genotype of the A/G locus of the rs 743572 CYP17A1 gene associated with androgen synthesis disorders in 155 women aged 19–35 years with various TPCS phenotypes, including healthy menstruating women with preserved reproductive functions. Results and discussion. In the general group of patients, the dominant genotype of the rs 743572 CYP 17A1 gene polymorphism was the heterozygous genotype A/G, which was detected in 45% of patients. The frequency of alien genotypes A/A and negative G/G was noted in 38.75% and 16.25% of patients. In the group of conditionally healthy donors, the dominant genotype of this locus was the homozygous genotype A/A with a frequency of 54.67%. Conclusion. The frequency of the mutant allele G was significantly higher in the general group of patients with PCOS compared to the control group (X2=4.5; p=0.05;). Carrying the negative allele G increases the risk of developing PCOS by 1.7 times (OR=1.7; CI95% 1.04-2.72). The mutant genotype (GG) in this group was also higher, but when measured by the x2 coefficients, this was insignificant (x2=3.7; p-0.10;). Carriage of the mutant homozygous genotypic variant G/G increases the risk of developing PCOS by 1.9 times (OR=1.9; CI95% 0.72-4.96). It was found that the proportion of carriage of the A allele (61.3% versus 72.7%; χ2=4.5; p=0.05) and its homozygous genotype A/A among conditionally healthy donors was significantly higher than in patients with PCOS (54.7% and 38.8%, respectively; χ2=3.9; p=0.05). The A/A genotype is associated with a reduced risk of developing PCOS (protective effect) (OR=0.5; CI95% 0.28-0.99).

Key words: polycystic ovary syndrome, CYP17A1 rs743572 gene, polymorphism, allele, genotype.

First page

125

Last page

132

For citation:Sadirova S.S., Irgasheva S.U., Boboev K.T. - PREVALENCE OF ALLELIC AND GENOTYPIC VARIANTS OF THE CYP17A1 RS743572 GENE POLYMORPHISM IN WOMEN WITH PCOS IN THE UZBEK POPULATION//New Day in Medicine 11(73)2024 125-132 https://https://newdayworldmedicine.com/en/new_day_medicine/11-73-2024

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