Insulin Receptor Gene is a major Focus of Research in PCOS

Researchers have been investigating the role of various genes which may play an important role in PCOS. One of these candidate genes appears to be in the area and possibly in the insulin receptor gene of chromosome 19. This may explain the higher incidence of insulin resistance, and diabetes mellitus in the syndrome. PCOS runs in families and sisters of PCOS patients. The latter may have a 50% chance of developing PCOS themselves. Drs. Walter Futterweit and Yaron Tomer of the Division of Endocrinology of The Mount Sinai School of Medicine, NYC, published another paper on this gene in the Fertility and Sterility issue of December 2002. An analysis of 99 women with classic anovulation, hirsutism or acne with PCOS and 134 control subjects was conducted. The results demonstrated a strong association of a marker near the insulin receptor gene with PCOS. A similar finding had also been described previously by Dr. Andrea Dunaif at Northwestern in Chicago. We then analyzed a sequence variant at the insulin receptor gene for association with PCOS. The sequence analysis showed that in lean PCOS patients one sequence variant was more common giving a relative risk of 2.1. Therefore, our result suggests that the insulin receptor gene codes for a protein that is responsible for insulin action at various tissue levels including the ovaries. Initial studies including those of Dunaif, Futterweit, Poretsky and others have shown that insulin is capable of stimulating the ovaries to produce testosterone which causes many of the symptoms of PCOS. Therefore, our results suggest that the inheritance of PCOS is caused by subtle changes in the insulin receptor gene which may alter its function in the ovaries. We hope that these findings  will enable the medical and research communities to understand the mechanisms leading to PCOS, and that this will ultimately lead to better diagnosis and treatment of this disorder.