巴西南部多囊卵巢综合征女性 TCF7L2 基因多态性的研究：一项横断面研究。

Polymorphisms of TCF7L2 gene in South Brazilian women with polycystic ovary syndrome: a cross-sectional study.

机构信息

Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-003 Porto Alegre, RS, Brazil.

出版信息

Eur J Endocrinol. 2013 Oct 1;169(5):569-76. doi: 10.1530/EJE-13-0105. Print 2013 Nov.

DOI:10.1530/EJE-13-0105

PMID:23935130

Abstract

OBJECTIVE

To assess whether TCF7L2 single nucleotide polymorphisms rs7903146 C/T and rs11196236 C/T are associated with polycystic ovary syndrome (PCOS) in South Brazilian women.

DESIGN

Cross-sectional study.

METHODS

Two hundred PCOS patients and 102 non-hirsute, ovulatory controls were genotyped by real-time PCR. Haplotypes were constructed from the combination of both polymorphisms. Frequencies were inferred using the PHASE 2.1.1 software.

RESULTS AND CONCLUSIONS

The distribution of rs7903146 (PCOS, 54.4% CC; 28.5% CT; 17.1% TT; controls, 51.0% CC; 37.0% CT; 12.0% TT) and rs11196236 (PCOS, 4.3% CC; 33.5% CT; 62.2% TT; controls, 3.2% CC; 35.5% CT; 61.3% TT) was similar between the groups. rs7903146 and rs11196236 were not in linkage disequilibrium (|D'|=0.34; r(2)=0.07). PCOS participants were younger, with higher age-adjusted BMI, waist circumference, blood pressure, triglycerides, insulin, homeostasis model assessment index to estimate insulin resistance and total testosterone, and lower HDL-C and sex hormone binding globulin vs controls. In PCOS, no differences between genotypes and haplotypes were found for clinical and metabolic variables. However, for each T (rs7903146) and T (rs11196236) allele added to the haplotypes, a variation of 5.87 cm in waist (P trend=0.01), 10.7 mg/dl in total cholesterol (P trend=0.03), and 10.3 mg/dl in LDL-C (P trend=0.01) was recorded. TCF7L2 variants are probably not implicated in PCOS development in South Brazilian women.

摘要

目的

评估 TCF7L2 单核苷酸多态性 rs7903146 C/T 和 rs11196236 C/T 是否与南巴西女性多囊卵巢综合征（PCOS）有关。

设计

横断面研究。

方法

通过实时 PCR 对 200 例 PCOS 患者和 102 例非多毛、排卵对照组进行基因分型。从这两种多态性的组合构建单倍型。使用 PHASE 2.1.1 软件推断频率。

结果和结论

rs7903146（PCOS，54.4% CC；28.5% CT；17.1% TT；对照组，51.0% CC；37.0% CT；12.0% TT）和 rs11196236（PCOS，4.3% CC；33.5% CT；62.2% TT；对照组，3.2% CC；35.5% CT；61.3% TT）在两组之间的分布相似。rs7903146 和 rs11196236 之间不存在连锁不平衡（|D'|=0.34；r(2)=0.07）。PCOS 参与者更年轻，调整年龄后的 BMI、腰围、血压、甘油三酯、胰岛素、稳态模型评估胰岛素抵抗指数和总睾酮水平较高，而高密度脂蛋白胆固醇和性激素结合球蛋白水平较低。在 PCOS 中，基因型和单倍型与临床和代谢变量之间无差异。然而，对于每个 T（rs7903146）和 T（rs11196236）等位基因添加到单倍型中，腰围增加 5.87 cm（P 趋势=0.01），总胆固醇增加 10.7 mg/dl（P 趋势=0.03），LDL-C 增加 10.3 mg/dl（P 趋势=0.01）。TCF7L2 变体可能与南巴西女性 PCOS 的发展无关。