Association of theCYP17andCYP19gene polymorphisms in women with polycystic ovary syndrome from Punjab, Pakistan

Background Polycystic ovarian syndrome (PCOS) is considered the most common multifactorial endocrinopathy. Genetic factors play an essential role in the pathogenesis of PCOS. CYP 17 enzyme is responsible for androgenesis, while CYP 19 enzyme works for androgen conversion into aromatic estrogen. Several studies have reported their association with PCOS. This study was aimed to investigate the association of cytochrome P450c17 alpha gene (CYP17) 5 '-untranslated regionMspA1/(rs743572) genetic polymorphism andrs2414096of cytochrome P450 or aromatase (CYP19) gene polymorphism with the susceptibility to PCOS in reproductive-age women from Punjab, Pakistan. Methods We performed a case-control association study was conducted, including 204 PCOS patients and 100 controls. Genotyping of SNP rs2414096 (CYP 19gene) and P450c17 alpha gene (CYP17) 5 '-untranslated regionMspA1 was performed on genomic DNA using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Statistical analysis was performed to find out the association of phenotypic and genotypic characters in etiopathology of PCOS. Results The genotype distribution forCYP 175 '-UTR MspA1 (TT, TC, CC) revealed that the frequency of genotype TC is significantly higher in PCOS patients (54.9%) vs. controls (OR 4.97, 95% CI 2.75-8.33,p<.001) (12%). The genotype distribution forCYP 19(GG, GA, AA) showed significantly higher frequency of GA (58.%) and AA (23.5%) in patients as compared to cases (18% and 8%, respectively) (OR 5.49, 95% CI 3.61-8.34,p<.001). Body mass index (BMI), waist, hip, infertility and family history of infertility, PCOS, diabetes, and hypertension were found significantly associated with PCOS.CYP 19genotypes were found significantly associated with PCOS patients having paraclinical traits of infertility and family history of infertility, whileCYP 17genotypes showed no significant association with any paraclinical traits in PCOS patients. Conclusions This is the first study on PCOS genotypes from Pakistan and results suggest thatCYP 175 '-UTR MspA1 (rs743572) (genotype TC) andCYP 19gene (rs2414096) (genotype GA) polymorphisms are significantly associated with susceptibility to PCOS in Pakistani women having the traits of infertility and family history of hypertension.

Automated summary

The study showed that certain polymorphisms in CYP17 and CYP19 genes are significantly associated with susceptibility to PCOS in Pakistani women, particularly those with traits of infertility and family history of hypertension.