醛糖还原酶基因多态性与糖尿病肾病的相关性研究

目的:探讨染色体7q35区醛糖还原酶(AR)基因启动子区C106T多态性与中国北方汉族人2型糖尿病肾病(DN)的相关性。方法:运用聚合酶链反应限制性片段长度多态性技术(PCR RFLP)、DNA测序技术及高浓度琼脂糖凝胶电泳分离技术,检测202例中国北方汉族人的AR基因启动子区C106T多态位点的等位基因和基因型,其中2型糖尿病(DM)患者139例,按尿微量清蛋白排泄率(UAER)分为早期DN组(61例)和非DN组(78例)两个亚组;健康成人组(CON组,63例)。各组间的等位基因频率与基因型频率比较用卡方检验,不同基因型DM患者的有关临床生化指标用(x±s)表示,比较用t检验。结果:①AR基因启动子区C106T多态位点存在T、C两种等位基因和CC、CT、TT三种基因型;②上述各种等位基因和基因型频率在DM组和CON组之间无显著性差异(P>0.05);③AR基因启动子区C106T多态位点的T等位基因和CT+TT基因型频率在早期DN组明显高于非DN组和CON组(P<0.05);④AR基因启动子区C106T多态性与DM患者的临床生化指标无相关性(P>0.05)。结论:中国北方汉族人AR基因启动子区存在C106T多态,对于2型DM患者,T等位基因可能是DN的易感等位基因,CT/TT基因型可能是DN的易感基因型。

Association between polymorphisms of aldose reductase gene and diabetic nephropathy

Objective: To investigate the association between polymorphisms of the C-106T at promotor region of aldose reductase (AR) gene in chromosome 7q35 and nephropathy with type 2 diabetes in people of Han nationality in North China. Methods: A case-control study in 202 Chinese subjects (including 139 type 2 diabetes mellitus with or without nephropathy and 63 norma1 control) was performed. The genotypes and alleles of polymorphisms of C-106T at promotor region of AR gene were determined by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method with 4% agarose gel electrophoresis. The results were validated by sequencing the PCR products. Results: The frequency of the T allele and CT+TT genotypes at promotor region of AR gene was significantly higher in DN+ group than that in DN-group and control (CON) group (P<0.05), but there was no significant difference between DM and CON group (P>0.05). Conclusion: The T allele and CT/TT genotypes at promotor region of AR gene may related to nephropathy with type 2 diabetes in people of Han nationality in North China.