Li C, Dong Y, Lü W
Qingdao Endocrinology and Diabetes Institute, Qingdao, Shandong 266033, China.
Zhonghua Nei Ke Za Zhi. 2001 Nov;40(11):729-32.
To investigate the association between a 894 G-->T mutation at exon 7 and a 27 base pair(bp) repeat polymorphism in intron 4 of the eNOS gene and diabetic nephropathy in Chinese.
A case control study of 228 Chinese subjects (including 143 type 2 diabetes mellitus with or without nephropathy and 85 normal controls) was performed. The number of 894 G-->T mutation allele and 27 bp repeat polymorhism alleles were determined by polymerasechain reaction restriction fragment lenth polymorphism(PCR-RFLP) method and PCR combined with 4% agarose electrophoresis.
The frequency of the T allele and TG genotype at exon 7 and the a allele and ab genotype in intron 4 were significantly higher in diabetic nephropathy positive (DN+) group than in diabetic nephropathy negative (DN-) group and control subjects(P < 0.05). Diabetic patients with coexistence of the T and a alleles had a higher incidence of diabetic nephropathy(P < 0.05) than those with only one of the two alleles or without any of the two alleles. Multivariate logistic regression analysis showed that blood glucose, GHbA1c, SBP, TC, 894 G-->T mutation at exon 7 and a 27 base pair(bp) repeat polymorphism in intron 4 of the eNOS gene are independent risk factors for diabetic nephropathy.
The T allele at exon 7 and a allele in intron 4 are related to diabetic nephropathy in Chinese patients with type with 2 diabetes mellitus. The incidence of diabetic nephropathy is higher in patients who have both T and a alleles than patients who have either T or a allele alone.
研究中国人群中内皮型一氧化氮合酶（eNOS）基因第7外显子894G→T突变及第4内含子27个碱基对（bp）重复序列多态性与糖尿病肾病的关系。
对228名中国受试者进行病例对照研究（包括143例有或无肾病的2型糖尿病患者和85名正常对照）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法及PCR结合4%琼脂糖电泳法检测894G→T突变等位基因及27bp重复序列多态性等位基因数量。
糖尿病肾病阳性（DN+）组第7外显子T等位基因和TG基因型以及第4内含子a等位基因和ab基因型的频率显著高于糖尿病肾病阴性（DN-）组和对照组（P<0.05）。同时存在T和a等位基因的糖尿病患者糖尿病肾病发病率高于仅携带其中一个等位基因或不携带这两个等位基因的患者（P<0.05）。多因素logistic回归分析显示，血糖、糖化血红蛋白（GHbA1c）、收缩压（SBP）、总胆固醇（TC）、第7外显子894G→T突变及eNOS基因第4内含子27bp重复序列多态性是糖尿病肾病的独立危险因素。
第7外显子T等位基因和第4内含子a等位基因与中国2型糖尿病患者的糖尿病肾病相关。同时携带T和a等位基因的患者糖尿病肾病发病率高于仅携带T或a等位基因的患者。
