Relationship of Polymorphisms of the AR Gene (Rs6152) With Polycystic Ovary Syndrome in a Group of Iraqi Women.

Abstract

Androgens are a group of steroidal sex hormones that have an important role in regulating female fertility and ovarian function. Androgens such as testosterone and dihydrotestosterone are affected by androgen receptors (AR) found in the cytoplasm inactively activated by androgens. This study explores androgen receptor (AR) gene polymorphisms in Iraqi women with PCOS that may cause the onset of this disease. Genomic DNA was extracted from the blood samples of women with and without PCOS. The AR gene was amplified by Tetra_ARMS PCR technique, then the PCR product was migrated onto a 2% agarose gel. Three genotypes appeared, the normal homozygous (GG) genotype (250+172 bp) and the heterozygous (GA) heterozygous genotype. It is represented by the band (250+172+118bp) and the homozygous mutant homozygous (AA) genotype is represented by the bundle (250+118 bp). Of the 70 PCOS patients included in the molecular study, 13 (18.6%) were carriers of the normal homozygous GG genotype, 40 (57.1%) were the heterozygous GA genotype and 17 (24.3%) were the mutated AA genotype. In the current study, the (OR) value of the mixed GA genotype appeared (5.543), which indicates that the mixed genotype is a risk factor for the disease at a probability level (p ≤ 0.01), while the OR value of the mutated AA genotype was (8.596).) This indicates that the homozygous mutant genotype is a risk factor for the disease at a probability level (0.01) p ≤. The frequency of the A allele is higher in the infected group compared to the control group, and this indicates that the A allele is responsible for the disease association. These results indicated that POCS It could be due to mutations in exon 1 of the AR gene.