Distribution of endothelial NO synthase gene alleles and locus D6S392 near Mn-dependent superox ide dismutase gene in patients with type I diabetes with diabetic nephropathy

Distribution of alleles and genotypes of microsatellite D6S392 neighboring mitochondrial superoxide dismutase (SOD2) gene and of two polymorphous markers (minisatellite ecNOS4a/4b and mutation in codone 298: replacement of glutamic acid (Glu) with asparaginic (Asp) acid) was studied in patients with insulin dependent diabetes mellitus (IDDM) with and without diabetic nephropathy (DN) (36 and 56 patients, respectively). Distribution of locus D6S392 alleles and polymorphous marker Glu298Asp was virtually the same in both groups. Differences were observed for minisatellite ecNOS4a/4b. In DN patients the content of allele 4a and of genotype 4a/4b is increased in comparison with patients without DN (38.9 vs. 22.3%, p < 0.02, and 61.1 vs. 41.7%, p < 0.05, respectively). Decrease in the percent age of 4b/4b genotype and allele 4b in DN patients are also significant (30.6 vs. 57.1%, p < 0.02, and 61.1 vs. 77.1%, p < 0.02). Hence, polymorphous site ecNOS4b/4a of NOS3 gene is associated with DN development in patients with IDDM living in Moscow.

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