Association study of four key folliculogenesis genes in polycystic ovary syndrome

Polycystic ovaries and impaired fertility are the result of abnormal folliculogenesis. Our objective was to determine the role of four candidate folliculogenesis genes in the development of polycystic ovary syndrome (PCOS). Women with and without PCOS (335 cases; 198 controls) were genotyped for single nucleotide polymorphisms in GDF9, BMP15, AMH, and AMHR2. Variants in these genes were not associated with PCOS. Certain GDF9 variants were associated with hirsutism scores and parity in PCOS patients. GDF9 may thus serve as a modifier gene. These results suggest that inherited defects in folliculogenesis are not major factors in the genetic susceptibility to PCOS.