新疆地区维吾尔族2型糖尿病视网膜病变与VEGF、ICAM-1 K469E、EPO及TCF7L2基因多态性的相关性研究

摘要

Objective To investigate the association of genetic polymorphism of VEGF,ICAM-1 K469E, EPO and TCF7L2 genes with diabetic retinopathy (DR)of type 2 diabetes mellitus in Uyghur population in Xinjiang.Methods 321 patients of T2DM in Uyghur population were screened,including 104 patients with nonproliferative retinopathy (NPDR),87 patients with proliferative retinopathy (PDR),and 130 pa-tients without diabetic retinopathy (T2DM).DNA was extracted from blood samples.VEGF,ICAM-1 K469E,EPO and TCF7L2 genes were genotyped using iMLDR technique.Allele and genotype frequencies were compared among three groups using theχ2 test.Results The genotype and allele frequencies of rs3025039 were different among three groups,and of rs5498,rs1617640 and rs7903146 were not different among three groups (P >0.05).Conclusion Polymorphism of VEGF gene is associated with DR.There were no correlation between gene polymorphism of ICAM-1 K469E,EPO and TCF7L2 and DR of T2DM in Uyghur population in Xinjiang.%目的：探讨血管内皮生长因子（VEGF）、细胞间黏附分子-1（ICAM-1）基因 K469 E、促红细胞生成素（EPO）及转录因子7类似物（TCF7L2）基因多态性与新疆维吾尔族2型糖尿病视网膜病变的关系。方法321例新疆维吾尔族T2DM患者入选，其中非增殖性糖尿病视网膜病变患者104例（NPDR组），增殖性糖尿病视网膜病变患者87例（PDR组），无糖尿病视网膜病变患者130例（T2DM组）。抽取血液样本提取 DNA。采用 iMLDR技术进行 VEGF、ICAM-1 K469E、EPO及TCF7L2基因分型，计算等位基因及基因型并进行χ2检验。结果3组间 rs3025039基因型及等位基因分布频率比较差异有统计学意义（P ＜0．001），rs5498、rs1617640和 rs7903146基因型及等位基因分布频率比较差异无统计学意义（P ＞0．05）。结论新疆维吾尔族DR发生与 VEGF基因多态性有关，而与 ICAM-1 K469E、EPO及TCF7L2基因多态性无关。