Presentation description

Polycystic Ovary Syndrome is the most common endocrinopathy, affecting 10% of women. PCOS is diagnosed using two out of three of the following criteria: 1) hyperandrogenism, 2) ovulatory dysfunction, and/or 3) polycystic ovarian morphology. Genome-Wide Association studies have identified 29 genomic variants that are associated with PCOS. The risk loci are located between genes or in introns so it is difficult to understand how they increase risk for PCOS. We hypothesize that the risk loci will be associated with the PCOS phenotypes, to help us understand how they cause risk for PCOS. We examined women with PCOS and control women >10 days after the last menstrual period and after a 12 hour fast. A physical examination, detailed patient history, and blood tests were performed, and subjects were genotyped for the 29 risk loci. Data were log normalized for analysis. Linear regression was used (SPSS, IBM) to assess the relationship between 29 genotypes as the independent variable and 15 measurable traits. A p value of ≤0.003 was considered significant. We found that the risk variant, rs11031005, can have an effect on the follicle-stimulating hormone beta subunit gene and luteinizing hormone. We are currently analyzing the additional 17 risk loci.