Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic.
Physiol Res. 2012;61(3):229-40. doi: 10.33549/physiolres.932272. Epub 2012 Apr 5.
The association of transcription factor 7-like 2 (TCF7L2) gene variants with the pathogenesis of T2D, gestational diabetes and polycystic ovary syndrome (PCOS) was examined. The study involved 1460 individuals: 347 T2D patients (D); 261 gestational diabetics (G); 147 offspring of T2D (O); 329 women with PCOS, and 376 controls (C). The SNPs: rs7901695; rs7903146; rs12255372 in the TCF7L2 gene were genotyped. Anthropometric and biochemical parameters, oGTT derived indices were assessed. In addition, free fatty acids (FFAs) were evaluated in 183 non-diabetic women. The CTT haplotype showed the strongest association with T2D with OR 1.57, p=0.0003. The frequency of the CTT/CTT haplotype was decreasing in following order: D 10.6, O 9.5, G 6.1, C 5.3 and PCOS 4.9 [%]. Among CTT carriers, significantly decreased levels of oGTT-stimulated insulin and C-peptide as well as proportions of fasting PUFAs were observed. The carriership of CTG/TCG was associated with gestational diabetes, OR 2.59, p=0.036. The association of TCF7L2 haplotypes with T2D and gestational diabetes but not with PCOS was confirmed. Novel association of TCF7L2 with FFAs composition was found.
研究了转录因子 7 样 2（TCF7L2）基因变异与 T2D、妊娠糖尿病和多囊卵巢综合征（PCOS）发病机制的关系。该研究共纳入 1460 人：347 例 T2D 患者（D）；261 例妊娠糖尿病患者（G）；147 例 T2D 子女（O）；329 例 PCOS 患者和 376 例对照者（C）。对 TCF7L2 基因中的 SNPs：rs7901695；rs7903146；rs12255372 进行基因分型。评估了人体测量和生化参数、oGTT 衍生指数。此外，在 183 名非糖尿病女性中评估了游离脂肪酸（FFAs）。CTT 单倍型与 T2D 的关联最强，OR 为 1.57，p=0.0003。CTT/CTT 单倍型的频率按以下顺序递减：D 为 10.6%，O 为 9.5%，G 为 6.1%，C 为 5.3%，PCOS 为 4.9%。在 CTT 携带者中，观察到 oGTT 刺激的胰岛素和 C 肽水平以及空腹多不饱和脂肪酸（PUFAs）比例显著降低。CTG/TCG 携带与妊娠糖尿病相关，OR 为 2.59，p=0.036。TCF7L2 单倍型与 T2D 和妊娠糖尿病相关，但与 PCOS 无关。发现了 TCF7L2 与 FFAs 组成之间的新关联。
