Genetic Basis of Polycystic Ovary Syndrome

The document from 2010 explores the genetic underpinnings of polycystic ovary syndrome (PCOS), a condition with a heritability of about 70%. It acknowledges the complexity of studying PCOS genetics due to the condition's heterogeneity and the lack of statistical power in many of the over 70 candidate gene studies conducted. A significant finding was the association of the FTO gene variant rs9939609 with PCOS, independent of BMI and androgen levels, in a study involving 463 cases and over 1300 controls. However, another study with 207 PCOS women and 100 controls found an association with the FTO variant only in obese PCOS patients or those with metabolic syndrome. The document also discusses the roles of vitamin D, PAI-1, and other genes in PCOS, while noting the lack of association with TCF7L2 and KCNJ11 gene variants. It emphasizes the need for further research, including more GWAS, to uncover additional genetic factors and to potentially develop novel treatments targeting insulin resistance. Additionally, the document touches on the role of abnormal steroid production and metabolism, the androgen receptor, and impaired folliculogenesis in PCOS, suggesting that larger studies are needed to confirm the roles of various genes and pathways in the condition.