目的 研究血管内皮生长因子A(vascular endothelial growth factor A,VEGFA)基因单核苷酸多态性(single nucleotide polymorphism,SNP)rs9369425与中国汉族人中2型糖尿病的关系.方法 本研究入选1892例2型糖尿病患者和1808名正常对照者.测定临床变量包括体重指数、腰围、腰臀比以及口服糖耐量试验中空腹、糖刺激后120 min血糖、胰岛素,使用稳态评估模型估测胰岛素敏感性和胰岛β细胞功能.使用时问飞行质谱法对rs9369425进行检测.结果 rs9369425罕见等位基因为G,其在病例组中频率为10.8%,对照组中频率为11.3%,未发现rs9369425与2型糖尿病相关性(P=0.5086).分析其与各糖代谢相关临床指标亦未见到显著关联(P值均>0.05).结论 VEGFA基因rs9369425位点与中国人2型糖尿病无关,该基因区域是否存在其它变异参与2型糖尿病待进一步研究.
Objective To investigate the relationship between the vascular endothelial growth factor A gene (VEGFA) rs9369425 single nucleotide polymorphism (SNP) and type 2 diabetes in Chinese Han population. Methods One thousand eight hundred and ninety two type 2 diabetes patients and 1808 controls with normal glucose were recruited in this study. Phenotypes including body mass index, waist,waist hip ratio, plasma glucose and serum insulin levels of blood obtained both at 0 and 120 minute during standard 75-gram glucose oral glucose tolerance tests, were analyzed. Insulin resistance and beta cell function were assessed by homeostasis model assessment (HOMA-IR and HOMA-B). Genotyping was performed by time-of-light mass spectrum using a Sequenom platform. Results The frequencies of minor allele G in the diabetic patients and controls were 10.8% and 11.3% respectively. No significant difference of allele distribution was detected between the cases and controls (P= 0.5086). No significant difference (P>0.05) was detected on the association between rs9369425 SNP and clinical phenotypes. Conclusion VEGFA rs9369425 was not associated with type 2 diabetes in Chinese Han population. Whether there is association in any other loci in this gene remained to be investigated.