title: Association of endothelial nitric oxide synthase gene intron 4 polymorphism with end-stage renal disease.
abstract: BACKGROUND
  Nitric oxide (NO) released from endothelial cells is related to the maintenance of physiological vascular tone. The impairment of endothelial NO generation brought about by gene polymorphism is considered one of the deterioration factors in progressive renal disease. In the endothelial nitric oxide synthase (eNOS) intron 4 polymorphism, the presence of the aa genotype has been associated with cardiovascular and renal disease. The aim of this study was to investigate the presence of eNOS gene intron 4 polymorphism in patients with end-stage renal disease (ESRD).
  
  
  METHODS
  A total of 114 patients and 94 controls were studied. DNA specimens were extracted from blood and amplified by polymerase chain reaction. The alleles were separated by agarose gel electrophoresis. Genotype distribution and allele frequencies were compared between groups using the chi-squared test.
  
  
  RESULTS
  Statistical analysis revealed that the frequency of the eNOS4 genotype aa was significantly different in ESRD patients and in controls (P=0.016, OR=2.07, CI 95%: 1.14-3.74). There was also a statistically significant difference between ESRD patients and controls regarding allele carriers (P=0.004; OR=2.26; CI 95%: 1.29-3.96). When the frequencies of allele carriers in the diabetic nephropathy group and in the control group were compared, a significant difference was found (P=0.034, OR=2.28; CI 95%: 1.04-5.00).
  
  
  CONCLUSIONS
  This study showed a strong correlation between eNOS4a polymorphism and end-stage renal disease.
authors.affiliation: Division of Nephrology and Geriatrics, Department of Medicine, Universidade Federal de São Paulo, and Instituto de Pesquisas Energéticas e Nucleares, Cidade Universitária IPEN-CNEN/SP, São Paulo, SP, Brazil. mhmarumo@ipen.br
authors.forename: Maria H
authors.initials: MH
authors.lastname: Bellini
authors.forename: Márcia N
authors.initials: MN
authors.lastname: Figueira
authors.forename: Michelly F
authors.initials: MF
authors.lastname: Piccoli
authors.forename: Júlio T
authors.initials: JT
authors.lastname: Marumo
authors.forename: Maysa S
authors.initials: MS
authors.lastname: Cendoroglo
authors.forename: Miguel C
authors.initials: MC
authors.lastname: Neto
authors.forename: Maria A
authors.initials: MA
authors.lastname: Dalboni
authors.forename: Marcelo C
authors.initials: MC
authors.lastname: Batista
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Goes
authors.forename: Nestor
authors.initials: N
authors.lastname: Schor
mesh_terms: D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D052250:Nitric Oxide Synthase Type III