Abstract
BACKGROUND: Although most women of reproductive age diagnosed with polycystic ovary syndrome (PCOS) represent a common disorder with significant long-term health implications. Investigations on the CYP17A1 gene, which plays a pivotal role in androgen biogenesis, explored its potential role as a predictive marker for the risk of PCOS. This research was conducted to evaluate the association of CYP17A1 polymorphism (rs743572 variant) with susceptibility to polycystic ovarian syndrome (PCOS) among the Iraqi population. MATERIALS AND METHODS: We executed a case-control study consisting of 66 PCOS patients and 74 controls. Restriction Fragment Length Polymorphism (RFLP) was used to detect the genotypes. RESULTS: The TT genotype of CYP17A1 was significantly associated with an increased risk of PCOS, with an approximately fourfold higher odds of developing PCOS versus the CC genotype. No significant increase in risk was seen for the CT genotype. The TT polymorphism of CYP17A1 (rs743572) was significantly associated with PCOS (adjusted OR=3.97, P=0.03), while the CT variant showed a non-significant trend, after adjusting for age and BMI. CONCLUSION: The current study, by providing further evidence for the association between CYP17A1 genetic polymorphisms and PCOS in multi-ethnic populations, has important implications for the management of this complex disorder, indicating the potential use of genotyping in assessing the genetic risk of the disorder in different ethnic groups.