TCF7L2基因多态性与多囊卵巢综合征的相关研究

Association of polymorphisms of TCF7L2 gene with endocrinal and metabolic characteristics in polycystic ovary syndrome

目的研究与胰岛素分泌活动有关的转录因子7样2基因(transcription factor7-like2,TCF7L2)的单核苷酸多态性(single nuclear polymorphisms,SNPs)与多囊卵巢综合征(polycystic ovary syndrome,PCOS)疾病易感性和临床内分泌代谢特征的关系。方法检测PCOS患者和同期就诊的输卵管因素或男性因素不孕患者的人体测量学指标、生殖内分泌、糖代谢等指标。行PCR扩增目的片断、DNA测序TCF7L2基因SNP rs290487,分析其与PCOS临床和内分泌代谢特征的关联。结果TCF7L2基因SNP rs290487的基因型和等位基因分布频率在PCOS组和对照组,差异均无统计学意义。与TT基因型PCOS患者比较,TC和CC基因型者OGTT120min血糖水平和葡萄糖曲线下面积升高,而早期时相胰岛素分泌指数△I30/△G30值显著低于TT基因型者,差异有统计学意义,提示胰岛β细胞功能受损。其它内分泌及糖代谢指标在不同基因型患者间的比较,差异均无统计学意义。结论TCF7L2基因多态性与PCOS早期糖代谢受损有关,对风险基因携带者的随访有非常重要的意义。

Objective ： To investigate the relationship between single nuclear polymorphisms （SNPs） in the transcription factor 7 - like 2 （TCFTL2） gene and polycystic ovary syndrome （PCOS）. Methods： The clinical, endocrinal and metabolic characteristics were measured in PCOS patients and controls with tubal factor or male factor infertility, matched for age and body mass index. SNP rs290487 of the TCF7L2 gene were analysed by pyrosequencing, and the effect of genotypes on clinical and biochemical traits were as- sessed in PCOS women. Results： The SNP rs290487 did not show significant differences in genotype frequencies between the PCOS and control group. In the PCOS group, the C allele carriers of rs290487 had significantly higher levels of 2h blood glucose and glucose area under the curve but lower insulinogenic index than did TT homozygotes, suggesting impaired insulin secretion. Conclusions： The TCF7L2 variants may confer an increased risk for early impairment of glucose homeostasis in PCOS. PCOS women with the risk - comferring genotype at rs290487 would be predicted to be at increased risk of beta - cell exhaustion and progression to diabetes.