Polymorphism of CYP17 and CYP11α for Polycystic Ovary Syndrome in a Korean Population

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age. This heterogeneous disorder may present polycystic ovarian morphology, obesity, hyperandrogenism, menstrual cycle disturbance and infertility either singly or in combination. The polycystic ovary gene or genes have not yet been identified and the effect of exogenous influences including hormone concentration and body weight changes is not well-defined. Since genes encoding enzymes in the testosterone synthesis and in the cholesterol side-chain cleavage are implicated in PCOS, we have analyzed the polymorphisms in the promoter of CYP17 gene for the frequency of T to C substitution and in the promoter of CYP11α gene for the (tttta)n repeat to determine whether they are associated with PCOS in Korean women of reproductive age. The allele frequency of the A2A2 genotype for CYP17 was 4 times higher than the one in Greek population with PCOS (33 % vs. 8 %). In addition, the genotype analysis of PCOS patients for the CYP11 (tttta)n repeat polymorphism revealed 77 % 216+ and 23 % 216- genotypes, respectively. This is similar to the study performed with British and Greek populations.