BACKGROUND PCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic derangement in PCOS. We previously identified FTO (rs9939609) as a susceptibility locus for PCOS among Sri Lankan women and also explored the role of kisspeptin. Associated factors of the FTO candidate gene among South Asians with PCOS are unknown. METHODS This study aimed to determine the association between FTO (rs9939609) polymorphism with clinical (BMI, acanthosis nigricans, hirsutism) and biochemical (serum kisspeptin and testosterone levels) characteristics of PCOS in a cohort of Sri Lankan women. Genetic and clinical data including serum kisspeptin and testosterone concentrations of our previously reported cases (n = 55) and controls (n = 110) were re-analyzed, specifically for an association with rs9939609 variant of FTO gene. RESULTS Logistic regression analysis (AA - OR = 5.7, 95% CI = 2.41-13.63, p < 0.05) and genetic inheritance analysis (AA - OR = 5.49, 95%CI = 2.34-12.88, p < 0.05) showed that FTO (rs9939609) polymorphism is significantly associated with PCOS and its metabolic manifestations. Serum testosterone was significantly higher in affected women with mutant genotypes (AA+AT) than with the normal allele (TT) (p < 0.05). Although serum kisspeptin was higher in subjects with PCOS and mutant alleles than controls, this difference was not significant (p > 0.05). CONCLUSION FTO gene variant rs9939609 is associated with hyperandrogenemia and metabolic manifestations of PCOS among women of Sri Lankan descent with the well-characterized phenotype. Serum kisspeptin and the FTO genotypes lack a significant association when adjusted for confounders.

中文翻译：

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深入研究FTO SNP（rs9939609）与PCOS经典表型表达的关联：一项斯里兰卡研究。

背景技术由于从青春期表现出的遗传，内分泌和环境影响，PCOS是女性的常见疾病。肥胖和肥胖相关（FTO）基因的rs9939609变体与PCOS中的代谢紊乱有关。我们先前将FTO（rs9939609）确定为斯里兰卡女性中PCOS的易感基因座，并且还探讨了Kisspeptin的作用。南亚人中FTO候选基因与PCOS的相关因素尚不清楚。方法本研究旨在确定斯里兰卡妇女队列中FTO（rs9939609）多态性与PCOS的临床（BMI，黑棘皮病，多毛症）和PCOS的生化特征（血清亲和素和睾丸激素水平）之间的关系。重新分析了我们先前报告的病例（n = 55）和对照（n = 110）的基因和临床数据，包括血清中的亲吻肽和睾丸激素浓度，特别是与FTO基因的rs9939609变体的关联。结果Logistic回归分析（AA-OR = 5.7，95％CI = 2.41-13.63，p <0.05）和遗传遗传分析（AA-OR = 5.49，95％CI = 2.34-12.88，p <0.05）显示FTO（ rs9939609）多态性与PCOS及其代谢表现显着相关。突变基因型（AA + AT）的患病女性的血清睾丸激素明显高于正常等位基因（TT）（p <0.05）。尽管患有PCOS和突变等位基因的受试者的血清Kisspeptin高于对照组，但这一差异并不显着（p> 0.05）。结论FTO基因变异rs9939609与高血雄激素血症和斯里兰卡血统具有明确表型的女性的PCOS代谢表现有关。调整混杂因素后，血清基索肽和FTO基因型之间缺乏显着关联。