Allelic estrogen receptor beta (ESR2) gene association with Polycystic Ovary Syndrome in unmarried Iraqi female of Baghdad governorate

Abstract

This study was carried out in the laboratories of Institute of Genetic Engineering and Biotechnology for postgraduate Studies – University of Baghdad from 1 Novmber 2018 until May 2019, and the sample collected from several laboratories in the city of Baghdad. The total numbers of samples are100 were collected from unmarried Iraqi female aged between (20-35) years old include (50) patients were diagnosed with polycystic ovary syndrome and (50) apparently healthy subject (control).The DNA was extracted and the electrical transfer was carried out for both groups and the ESR2 SNP (rs4986938) gene were detected by qRT-PCR. The result showed there was significant difference between control and patients in genotypes of  wild allele (GG) (64.0 vs. 48.0%, respectively; odds ratio = 0.52 ; p-value = 0.0472), and that A allele frequency was significantly increased in patients compared to control (p-value = 0.038) and the wild allele G showed a significant decreased frequency in patients (p-value = 0.038). The findings indicate that the GA genotype of rs4986938 SNP was efficient in raising the serum amount of LH in PCOS patients relative to GG or AA genotype (P<0.05) but the distinction between GA and AA genotypes was substantial. While the AA genotype of rs4986938 SNP was effective in increasing the serum level of FSH in PCOS patients compared GG or GA genotype (P<0.05) and both differences were highly significant. The GA genotype of rs4986938 SNP was effective in increasing the serum level of T3 in PCOS patients compared GG or AA genotype (P<0.05), but the difference was significant between GA and AA genotypes. This study was concluded that the mutant allele A could be associated with an increased risk to develop PCOS (Odds ratio= 1.88), while the wild allele G might have a protective effect.