Type 2 diabetes-associated genetic variants of FTO, LEPR, PPARg, and TCF7L2 in gestational diabetes in a Brazilian population

ABSTRACT Objective Gestational diabetes mellitus (GDM) is a metabolic disorder that shares pathophysiologic features with type 2 diabetes mellitus. The aim of this study was to investigate the association of the polymorphisms fat mass and obesity-associated (FTO) rs1421085, leptin receptor (LEPR) rs1137100, rs1137101, peroxisome proliferator-activated receptor gamma (PPARg) rs1801282, and transcription factor 7-like 2 (TCF7L2) rs7901695 with GDM. Subjects and methods 252 unrelated Euro-Brazilian pregnant women were classified into two groups according to the 2015 criteria of the American and Brazilian Diabetes Association: healthy pregnant women (n = 125) and pregnant women with GDM (n = 127), matched by age. The polymorphisms were genotyped using fluorescent probes (TaqMan®). Results All groups were in Hardy-Weinberg equilibrium. The genotype and allele frequencies of the studied polymorphisms did not show significant differences between the groups (P > 0.05). In the healthy and GDM groups, the C allele frequencies (95% CI) of the FTO rs1421085 polymorphism were 36.8% [31–43%] and 35.0% [29–41%]; the G allele frequencies (95% CI) of the LEPR rs1137100 polymorphism were 24.8% [19–30%] and 22.8% [18–28%]; the G allele frequencies (95% CI) of the LEPR rs1137101 polymorphism were 43.6% [37–50%] and 42.9% [37–49%]; the G allele frequencies (95% CI) of the PPARg rs1801282 polymorphism were 7.6% [4–11%] and 8.3% [5–12%]; and the C allele frequencies (95% CI) of the TCF7L2 rs7901695 polymorphism were 33.6% [28–39%] and 39.0% [33–45%], respectively. Conclusion The studied polymorphisms were not associated with GDM in a Brazilian population.

摘要
研究目的 妊娠糖尿病（Gestational diabetes mellitus, GDM）是一类与2型糖尿病共享病理生理特征的代谢紊乱性疾病。本研究旨在探讨脂肪量与肥胖相关基因（fat mass and obesity-associated, FTO）rs1421085、瘦素受体基因（leptin receptor, LEPR）rs1137100、rs1137101、过氧化物酶体增殖物激活受体γ（peroxisome proliferator-activated receptor gamma, PPARγ）rs1801282以及转录因子7类似物2（transcription factor 7-like 2, TCF7L2）rs7901695的基因多态性与GDM的关联。

研究对象与方法 按照2015年美国糖尿病协会与巴西糖尿病协会的诊断标准，将252名无亲缘关系的欧洲裔巴西孕妇按年龄匹配分为两组：健康孕妇组（n=125）与妊娠糖尿病孕妇组（n=127）。采用荧光探针（TaqMan®）技术对上述基因多态性进行基因分型。

结果 所有组别均符合哈迪-温伯格平衡（Hardy-Weinberg equilibrium）。本次研究涉及的基因多态性的基因型与等位基因频率在两组间均无显著差异（P>0.05）。在健康孕妇组与GDM组中，FTO rs1421085多态性的C等位基因频率（95%置信区间）分别为36.8% [31%–43%]与35.0% [29%–41%]；LEPR rs1137100多态性的G等位基因频率（95%置信区间）分别为24.8% [19%–30%]与22.8% [18%–28%]；LEPR rs1137101多态性的G等位基因频率（95%置信区间）分别为43.6% [37%–50%]与42.9% [37%–49%]；PPARγ rs1801282多态性的G等位基因频率（95%置信区间）分别为7.6% [4%–11%]与8.3% [5%–12%]；TCF7L2 rs7901695多态性的C等位基因频率（95%置信区间）分别为33.6% [28%–39%]与39.0% [33%–45%]。

结论 在巴西人群中，本研究所涉及的基因多态性与GDM无显著关联。