title: Promoter polymorphism T-786C, 894G→T at exon 7 of endothelial nitric oxide synthase gene are associated with risk of osteoporosis in Sichuan region male residents.
abstract: OBJECTIVE
  To investigate the association between genetic polymorphism of T-786C in promoter region, 894G→T at exon 7 of endothelial nitric oxide synthase (eNOS) gene and osteoporosis (OP) disease.
  
  
  METHODS
  The genotypes of 350 patients with osteoporosis and 350 healthy controls were detected by polymerase chain reaction (PCR) and DNA sequencing. The allele ratios and genotype distributions in the patients and controls were assessed using the Pearson χ(2)-test. Odds ratios (OR) with two tailed P-values and 95% confidence intervals (CI) were calculated as a measure of the association of the eNOS genotypes with OP.
  
  
  RESULTS
  the C allele distribution frequency of T-786C eNOS gene in OP group (8.5%) was significantly higher than that in control group (3.9%), relative risk (OR) of OP associated with the CC genotype was 2.68 (95% CI, 0.92 to 1.37). The T allele frequency of 894G→T at exon 7 in eNOS gene in OP group (11.5%) was also significantly higher than that in control group (5.2%), OR of OP associated with the TT genotype was 2.60 (all P<0.05).
  
  
  CONCLUSIONS
  The analysis results indicated that both T-786C in promoter region and 894G→T at exon 7 of eNOS gene might be genetic predisposal factors of OP, these polymorphisms may be independently or synergic with other loci to have an impact on the incidence of OP.
authors.affiliation: Department of Orthopedics, The First People's Hospital of Chengdu Sichuan Province, P. R. China.
authors.forename: Zuchao
authors.initials: Z
authors.lastname: Gu
authors.affiliation: Department of Orthopedics, The First People's Hospital of ChengduSichuan Province, P. R. China; Department of Orthopedics, Peking Union Medical College HospitalBeijing, 10005, P. R. China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Orthopedics, Peking Union Medical College Hospital Beijing, 10005, P. R. China.
authors.forename: Guixing
authors.initials: G
authors.lastname: Qiu
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005091:Exons; D005787:Gene Frequency; D056726:Genetic Association Studies; D005820:Genetic Testing; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D015994:Incidence; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D016017:Odds Ratio; D010024:Osteoporosis / Q000175:diagnosis / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D018570:Risk Assessment; D012307:Risk Factors; D012737:Sex Factors
chemical_list: C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III
keywords: 894G→T; T-786C; endothelial nitric oxide synthase gene; osteoporosis; polymorphism
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