中文摘要：

多个欧洲白人的Meta分析表明核苷酸焦磷酸酶1（Ectonucleotide pyrophosphatase/phosphodiesterase 1,ENPP1）基因K121Q多态与2型糖尿病相关联,但在日本人、韩国人和中国台湾人的研究中没有发现相关性,而在中国大陆人群中二者的关联研究结果不尽一致。文章调查了湖北地区539例2型糖尿病患者和404名正常人ENPP1基因K121Q多态性。基因型及等位基因频率在病例组和对照组间没有显著差异（P〉0.05）,但经性别、年龄和体重指数调整后的Logistic回归分析揭示XQ基因型与2型糖尿病显著相关（OR=1.5,95%CI：1.39~1.62,P〈0.001）。对性别进行的亚组分析显示,女性病例组Q等位基因和XQ基因型的频率显著高于对照组（Q：12.4%vs.6.1%,P=0.001;XQ：23.7%vs.11.7%,P=0.001）。结果表明ENPP1基因K121Q多态与湖北汉族人2型糖尿病的关联存在性别差异,在女性中更明显。文章是对中国大陆人群进行的第一个Meta分析,结果显示Q等位基因增加2型糖尿病的发病风险（OR=1.42,P=0.042）。

英文摘要：

Multiple meta-analyses in Europeans showed that ENPP1 K121Q polymorphism was associated with type 2 diabetes.However,no association in Japanese,Korean,and Chinese in Taiwan,and inconsistent results in mainland Chinese were reported.In this study,the single nucleotide polymorphism K121Q of the ENPP1gene was genotyped in 539 type 2 diabetes patients and 404 healthy controls.No difference was observed in the genotypic and alle-lic frequencies of ENPP1 K121Q between the cases and the controls.Logistic regression analysis with adjustment of sex,age,and BMI suggested that the XQ genotype was significantly associated with the risk of type 2 diabetes（OR=1.5,95%CI： 1.39–1.62,P0.001）.Sub-group analysis by gender revealed that the association between ENPP1 K121Q and type 2 diabetes was observed only in women（Q： 12.4% vs.6.1%,P=0.001;XQ： 23.7% vs.11.7%,P=0.001）.Our results suggest that the association of ENPP1 K121Q with type 2 diabetes in Hubei Han Chinese population is more evident in women.The first meta-analysis of 10 Chinese studies indicated that the Q allele increased the risk of type 2 diabetes（OR=1.42,P=0.042）.