Genomic association of SNPs rs4077582 of CYP11A1 and rs700519 of CYP19A1 genes with polycystic ovarian syndrome

Polycystic Ovarian Syndrome (PCOS) is a complex endocrine disorder that affects women of reproductive age. Several candidate genes have been shown to be associated with PCOS. Previous studies have shown that variations in CYP11A1 and CYP19A1 genes are associated with hormonal dysregulation associated with PCOS in different ethnic populations. This study aims to investigate the genomic association between SNPs rs4077582 of CYP11A1 and rs700519 of CYP19A1 and the development of PCOS in Pakistani population. A total of 280 subjects were recruited for the study, including 142 PCOS cases diagnosed based on Rotterdam criteria and 138 age-matched controls. The anthropometric, hormonal and biochemical parameters of all subjects were analyzed. Genomic DNA was extracted and genotyping of the selected SNPs was performed using Sanger sequencing. Further, we also examined the genotypic-phenotypic correlation analysis for various clinical and biochemical parameters for SNP rs4077582 of CYP11A1. We found significant differences in allele frequency (OR = 0.42, 95% CI = 0.30-0.60, χ = 16.3693, p = 0.000052) and genotypic frequency (χ = 26.4376, p = 0.00001) between PCOS women and controls for SNP rs4077582 of CYP11A1. Genotype-phenotype correlation analysis showed a significant difference in FAI (p = 0.005), testosterone (p = 0.001), androstenedione (p = 0.005) and urea (p = 0.049) levels between the three genotypes. No association between SNP rs700519 of CYP19A1 and PCOS was observed. Our results suggest the role of SNP rs4077582 of CYP11A1 gene in the clinical manifestation of PCOS in Pakistani women.