title: Association of polymorphisms of endothelial nitric oxide synthase (eNOS) gene with the risk of primary open angle glaucoma in a Brazilian population.
abstract: The present study aimed to investigate the association of endothelial nitric oxide synthase (eNOS) gene polymorphisms with primary open angle glaucoma (POAG). We conducted a case-control study that included 90 patients with POAG and 127 healthy controls whose blood samples were genotyped for the functional polymorphisms T-786C and Glu298Asp of the eNOS gene by Taqman fluorescent allelic discrimination assay. The T-786C polymorphism was significantly associated as a risk factor for POAG among women (OR: 2.28; 95% CI: 1.11 to 4.70, p=0.024) and marginally associated to the risk of POAG in the patients ≥52 years of age at diagnosis (OR: 2.11; 95% CI: 0.98 to 4.55, p=0,055). However, these results was not confirmed after adjustments for gender, age, self-declared skin color, tobacco smoking and eNOS genotypes by multivariate logistic regression model (OR: 2.08; 95% CI: 0.87 to 5.01, p=0.101 and OR: 2.20; 95% CI: 0.95 to 5.12, p=0.067, respectively). The haplotype CG of T-786C and Glu298Asp showed a borderline association with risk of POAG in the overall analysis (OR: 1.76; 95% CI: 0.98 to 3.14, p=0.055) and among women (OR: 2.02; 95% CI: 0.98 to 4.16, p=0.052). Furthermore, the CG haplotype was significantly associated with the development of POAG for the age at diagnosis group ≥52 years (OR: 3.48; 95% CI: 1.54 to 7.84, p=0.002).We suggested that haplotypes of the polymorphisms T-786C and Glu298Asp of eNOS may interact with gender and age in modulating the risk of POAG.
authors.affiliation: Universidade Estadual de Santa Cruz, Department of Health, Laboratory of Pharmacogenomic and Genetic Epidemiology (LAFEM), Ilhéus, Bahia, 45662-900, Brazil. tmsuesc@yahoo.com.br
authors.forename: Thiago
authors.initials: T
authors.lastname: Magalhães da Silva
authors.forename: Auta Viviane
authors.initials: AV
authors.lastname: Rocha
authors.forename: Riccardo
authors.initials: R
authors.lastname: Lacchini
authors.forename: Cintia Rodrigues
authors.initials: CR
authors.lastname: Marques
authors.forename: Elias Souza
authors.initials: ES
authors.lastname: Silva
authors.forename: José Eduardo
authors.initials: JE
authors.lastname: Tanus-Santos
authors.forename: Fabrício
authors.initials: F
authors.lastname: Rios-Santos
mesh_terms: D000483:Alleles; D001938:Brazil; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000201:enzymology* / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects / Q000235:genetics
chemical_list: C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III