Division of Endocrinology and Nuclear Medicine, Department of Internal Medicine, Medical University Graz, A-8036 Graz, Austria.
Metabolism. 2010 Apr;59(4):575-80. doi: 10.1016/j.metabol.2009.08.023. Epub 2009 Nov 14.
Variants in the fat mass and obesity-associated gene (FTO) are associated with obesity and type 2 diabetes mellitus. Women with polycystic ovary syndrome (PCOS) are frequently affected by obesity and impaired glucose tolerance. The aim of this study was to investigate the impact of FTO variants (rs9939609) on metabolic and endocrine parameters in PCOS women. We genotyped the single nucleotide polymorphism rs9939609 (T/A) in 288 PCOS women and performed metabolic and hormonal measurements, oral glucose tolerance test, hirsutism score, and lipometry. The A/T + A/A genotype showed an increased prevalence in overweight/obese PCOS patients (odds ratio [OR] = 1.91, P = .028) and in PCOS women with impaired glucose tolerance (OR = 3.23, P = .009). The A allele was associated with a significant increase in free testosterone (P = .042), weight (P = .024), body mass index (P = .011), 2-hour glucose (P = .047), 1-hour insulin (P = .032), and AUCins (area under the curve insulin) (P = .038). In a logistic regression analysis, the A allele was associated with free testosterone (P = .025; OR = 1.54; 95% confidence interval, 1.06-2.25; B = 0.86). Total body fat (percentage) (P = .016), total fat mass (P = .013), visceral adipose tissue mass (P = .044), and subcutaneous fat mass (P = .011) were significantly increased in PCOS women carrying the A allele. We demonstrated that variants within the FTO gene influence hyperandrogenemia and anthropometric parameters in women with PCOS, indicating an important role of FTO variants not only in obesity and diabetes but also in hyperandrogenism in women with PCOS.
FTO 基因变异与肥胖和 2 型糖尿病有关。多囊卵巢综合征（PCOS）患者常受肥胖和葡萄糖耐量受损的影响。本研究旨在探讨 FTO 变异（rs9939609）对 PCOS 女性代谢和内分泌参数的影响。我们对 288 名 PCOS 女性的单核苷酸多态性 rs9939609（T/A）进行基因分型，并进行代谢和激素测量、口服葡萄糖耐量试验、多毛症评分和脂肪测量。A/T+A/A 基因型在超重/肥胖的 PCOS 患者中更为常见（比值比[OR] = 1.91，P =.028），在葡萄糖耐量受损的 PCOS 患者中更为常见（OR = 3.23，P =.009）。A 等位基因与游离睾酮（P =.042）、体重（P =.024）、体重指数（P =.011）、2 小时血糖（P =.047）、1 小时胰岛素（P =.032）和 AUCins（胰岛素曲线下面积）（P =.038）显著增加有关。在逻辑回归分析中，A 等位基因与游离睾酮（P =.025；OR = 1.54；95%置信区间，1.06-2.25；B = 0.86）有关。携带 A 等位基因的 PCOS 女性的总身体脂肪（百分比）（P =.016）、总脂肪量（P =.013）、内脏脂肪组织质量（P =.044）和皮下脂肪量（P =.011）显著增加。我们证明，FTO 基因内的变异影响 PCOS 女性的高雄激素血症和人体测量参数，表明 FTO 变异不仅在肥胖和糖尿病中，而且在 PCOS 女性的高雄激素血症中也具有重要作用。
