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Abstract：
Gestational diabetes mellitus (GDM) is one of the most frequent predictors of obstetric outcome among Romanian pregnant women. Thus, we aimed to investigate the role of rs7903146 (C/T) TCF7L2 gene polymorphism in the presence of GDM and to evaluate the influence on maternal-fetal outcomes in a cohort of pregnant women from Northern Transylvania. Our prospective case-control study was performed in a tertiary maternity center on 61 patients diagnosed with GDM and 55 normal pregnant patients. The patients were genotyped for rs7903146 (C/T) polymorphism of the TCF7L2 gene using the PCR-RFLP method between 24 and 28 weeks of gestation. The minor T allele was associated with a high risk of developing GDM (OR 1.71 [95% CI 0.82-3.59]) if both heterozygote and homozygote types were considered. Also, a higher risk of developing GDM was observed in homozygous carriers (OR 3.26 [95% CI 1.10-9.68]). Women with the TT genotype were more likely to require insulin therapy during pregnancy than other genotypes with a 5.67-fold increased risk ([1.61-19.97], p = 0.015). TT homozygote type was significantly associated with fetal macrosomia for birth weights greater than the 95th percentile (p = 0.034). The homozygous TT genotype is associated with an increased risk of developing GDM. Also, rs7903146 (C/T) TCF7L2 variant is accompanied by a high probability of developing insulin-dependent gestational diabetes mellitus (ID-GDM). The presence of at least one minor T allele was associated with a higher risk of fetal macrosomia.
摘要：
妊娠期糖尿病（GDM）是罗马尼亚孕妇中最常见的产科结局预测因子之一。因此，我们的目的是研究rs7903146(C/T)TCF7L2基因多态性在GDM患者中的作用,并评估北Transylvania孕妇队列对母胎结局的影响.我们的前瞻性病例对照研究是在三级产妇中心对61例诊断为GDM的患者和55例正常孕妇进行的。在妊娠24至28周之间，使用PCR-RFLP方法对患者进行TCF7L2基因rs7903146（C/T）多态性的基因分型。如果同时考虑杂合子和纯合子类型，则次要T等位基因与发生GDM的高风险相关（OR1.71[95％CI0.82-3.59]）。此外，在纯合携带者中观察到发生GDM的风险较高(OR3.26[95%CI1.10-9.68]).与风险增加5.67倍的其他基因型相比，具有TT基因型的女性在怀孕期间更可能需要胰岛素治疗（[1.61-19.97]，p=0.015)。TT纯合子类型与出生体重大于第95百分位数的巨大胎儿显着相关（p=0.034）。纯合TT基因型与发展GDM的风险增加有关。此外，rs7903146（C/T）TCF7L2变体伴有发生胰岛素依赖型妊娠糖尿病（ID-GDM）的高概率。至少一个次要T等位基因的存在与胎儿巨大儿的高风险相关。
