Christopoulos Panagiotis, Mastorakos George, Gazouli Maria, Panidis Dimitrios, Deligeoroglou Efthimios, Katsikis Ilias, Papadias Konstantinos, Diamandi-Kandarakis Evanthia, Creatsas George
Second Department of Obstetrics and Gynecology, School of Medicine, University of Athens, Athens, Greece.
Gynecol Endocrinol. 2008 Sep;24(9):486-90. doi: 10.1080/09513590802196379.
Polycystic ovary syndrome (PCOS), the most common reproductive endocrine disorder of premenopausal women, is strongly associated with hyperinsulinemia and type 2 diabetes mellitus (T2DM). Given the phenotypic overlap between PCOS and T2DM, our objective was to investigate whether the TCF7L2 rs7903146(C/T) and the KCNJ11 E23K variants are involved in susceptibility to PCOS and related traits in a Greek population. A total of 183 PCOS patients and 148 healthy controls participated. All participants were Greeks. Blood was taken before hormonal therapy. PCOS patients and healthy controls were genotyped for the TCF7L2 and KCNJ11 variants. The T allele of the TCF7L2 rs7903146 variant was found to be marginally over-represented in Greek patients with PCOS. There was no association between KCNJ11 E23K polymorphism and PCOS in the present study. In addition, there were no associations observed between hormone levels and insulin resistance in PCOS carriers of TCF7L2 rs7903146 and KCNJ11 E23K variants. These data provide evidence that the rs7903146 variant of the TCF7L2 gene might influence PCOS predisposition, while no association is observed between the E23K variant of KCNJ11 and susceptibility to PCOS and related traits.
多囊卵巢综合征（PCOS）是绝经前女性最常见的生殖内分泌疾病，与高胰岛素血症和2型糖尿病（T2DM）密切相关。鉴于PCOS与T2DM之间存在表型重叠，我们的目的是研究TCF7L2 rs7903146（C/T）和KCNJ11 E23K变异是否与希腊人群中PCOS及其相关特征的易感性有关。共有183例PCOS患者和148例健康对照参与研究。所有参与者均为希腊人。在进行激素治疗前采集血液样本。对PCOS患者和健康对照进行TCF7L2和KCNJ11变异的基因分型。结果发现，TCF7L2 rs7903146变异的T等位基因在希腊PCOS患者中略为多见。在本研究中，KCNJ11 E23K多态性与PCOS之间无关联。此外，在携带TCF7L2 rs7903146和KCNJ11 E23K变异的PCOS患者中，未观察到激素水平与胰岛素抵抗之间存在关联。这些数据表明，TCF7L2基因的rs7903146变异可能影响PCOS的易感性，而未观察到KCNJ11的E23K变异与PCOS及其相关特征的易感性之间存在关联。
