糖尿病分子生物学和遗传学

　　【摘要】 目的 探讨ATⅡ受体1(AGTR1)和肌肽二肽酶1(CNDP1)基因多态性与糖尿病慢性肾脏疾病(CKD)的相关性。 方法 选取T2DM患者292例，采集外周血标本，全血用于提取基因组DNA，血清用于检测生化指标。利用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)测序分析AGTR1和CNDP1基因多态性。 结果 AGTR1的C等位基因是CKD的危险因素(P=0.028，OR=2.269，95%CI：1.134~6.837)，AGTR1基因 rs5186基因多态性可能为患CKD危险因素。CNDP1的C等位基因是CKD的危险因素(P=0.024，OR=2.571,95%CI：1.127~4.211)，CNDP1基因 rs4892247基因多态性可能为患CKD的危险因素。 结论 AGTRl的C等位基因和CNDP1的C等位基因与CKD相关。

　　【关键词】 血管紧张素Ⅱ受体1基因;肌肽二肽酶1基因;基因多态性;糖尿病慢性肾脏疾病;相关性

　　【Abstract】 Objective To investigate the correlation between chronic kidney disease (CKD) in diabetes and angiotensin Ⅱ type 1 receptor (AGTR1), carnosinedipeptidase 1 (CNDP1) gene polymorphism. Methods A total of 292 T2DM patients were selected in this study. Peripheral blood samples were collected. Whole blood samples were used to extract genomic DNA, and serum samples were used for biochemical markers detection. By polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) and sequencing analysis, CNDP1, AGTR1 polymorphisms were tested. Results C allele in AGTR1 gene is a risk factor for CKD (P=0.028, OR=2.269, 95%CI：1.134~6.837). rs5186 polymorphism in AGTR1 gene may be a risk factor for CKD. C allele in CNDP1 gene is a risk factor for CKD (P=0.024, OR=2.571, 95%CI：1.127~4.211). rs4892247 polymorphism in CNDP1 gene be a risk factor for CKD. Conclusion C allele in AGTRl and C allele in CNDPl gene were associated with CKD.

　　【Key words】Angiotensin Ⅱ type 1 receptor (AGTR1) gene;Carnosinedipeptidase 1 (CNDP1) gene;Gene polymorphism;Chronic kidney disease (CKD) in diabetes;Correlation