Rs2209972

rs2209972, a SNP associated with the insulin-degrading enzyme gene IDE, has been identified as occuring at higher frequency in Chinese female patients with polycystic ovary syndrome (PCOS). The IDE gene has been linked to type-2 diabetes, and many patients with PCOS have endocrine abnormalities that suggest a shared etiology with type-2 diabetes.

The risk allele for this SNP is rs2209972(C), and in this study comparing ~300 patients to an equal number of controls the rs2209972(C;C) and rs2209972(C;T) genotypes were associated with higher fasting insulin levels, a higher body mass index (BMI), and (theoretically) insulin resistance (HOMA-IR) than rs2209972(T;T) carriers.