[The association between polymorphism of endothelial nitric oxide synthase gene and diabetic nephropathy].
OBJECTIVE
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Li
C
C
Qingdao Endocrinology and Diabetes Institute, Qingdao, Shandong 266033, China.
Dong
Y
Y
Lü
W
W
D000368:Aged; D016022:Case-Control Studies; D003920:Diabetes Mellitus / Q000235:genetics; D003928:Diabetic Nephropathies / Q000235:genetics*; D004727:Endothelium / Q000166:cytology; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D019001:Nitric Oxide Synthase / Q000235:genetics*; D052250:Nitric Oxide Synthase Type III; D017354:Point Mutation; D011110:Polymorphism, Genetic
C496314:NOS3 protein, human; D019001:Nitric Oxide Synthase; D052250:Nitric Oxide Synthase Type III