Current developments in the molecular genetics of the polycystic ovary syndrome.
Franks S., Gharani N., Waterworth D., Batty S., White D., Williamson R., McCarthy M.
Polycystic ovary syndrome (PCOS) is most likely a complex trait with an oligogenic basis. In this article, we present evidence from molecular genetic studies for involvement of the steroid synthesis gene CYP11a (coding for P450 cholesterol side-chain cleavage) in the aetiology of hyperandrogenism. Variation in the regulatory region of the insulin gene also appears to contribute to the development of PCOS.