Abstract

The FTO ( Fat mass and obesity associated) locus has recently been associated with obesity and type 2 diabetes (T2D) in humans. To understand the role of the FTO gene in polycystic ovary syndrome (PCOS) we genotyped single nucleotide polymorphism (SNP) rs1421085 (C/T) in women with PCOS ( n = 207) and controls ( n = 100) from a Central European population. The homozygous C/C genotype showed increased prevalence in PCOS patients either obese or with metabolic syndrome (MetS) compared to lean PCOS patients or controls (27.6%, 38.9%, 22.3%, and 16.3%, respectively). In logistic regression, this genotype strongly associated with MetS ( P < 0.0001, OR 3.2, 95% CI 1.8–5.7) and impaired fasting glucose (IFG) with P < 0.0007, OR 7.7, 95% CI 2.1–28.6, independently of BMI or age, and to AUC gluc during OGTT ( P < 0.0001, α = 0.99), indicating an influential role of the FTO gene in the glucose intolerance component of MetS.

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