CYP19A1 gene polymorphism and polycystic ovarian syndrome

Objective The CYP19 gene product enzyme aromatase mediates the conversion of the androgen testosterone to estradiol.The aim of this study is to investigate whether the CYP19A1 gene single nucleotide polymorphism( SNP) is associated with the susceptibility to polycystic ovary syndrome( PCOS) and serum hormone levels.Methods We conducted a case-controlled study,which included 373 PCOS patients and 313 healthy controls.We genotyped SNP rs2899470 in the subjects using the polymerase chain reactionrestriction fragment length polymorphism( PCR-RFLP) method and analyzed the frequencies of genotypes and alleles as well as the association of different genotypes with age,menarchal age,body mass index( BMI),and serum levels of hormones.Results The genotypic distributions of rs2899470 GG,TG,and TT in the PCOS women were 44.5%,49.6%,and 5.9%,respectively,significantly different from 39.3%,48.6%,and 12.1% in the healthy controls( P = 0.013).The frequency of the G allele was 69.3% in the former,remarkably higher than 63.6% in the latter( P = 0.025).The rs2899470 genotypic frequencies were associated with the serum E2 /T levels in the PCOS patients.Conclusion SNP rs2899470 in the CYP19A1 gene is associated with the susceptibility to PCOS,and so is the genotype of rs2899470 with serum E2 /T levels,which may be attributed mainly to the reduced activity of aromatase.