Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPSCHREIBER, RobertoFERREIRA-SAE, Maria C.RONCHI, Juliana A.PIO-MAGALHAES, Jose A.CIPOLLI, Jose A.MATOS-SOUZA, Jose R.MILL, Jose G.VERCESI, Anibal E.KRIEGER, Jose E.FRANCHINI, Kleber G.PEREIRA, Alexandre C.NADRUZ JUNIOR, Wilson2017-11-272017-11-272011BMC MEDICAL GENETICS, v.12, article ID 114, 6p, 20111471-2350https://observatorio.fm.usp.br/handle/OPI/22811Background: Reactive oxygen species have been implicated in the physiopathogenesis of hypertensive end-organ damage. This study investigated the impact of the C242T polymorphism of the p22-phox gene (CYBA) on left ventricular structure in Brazilian hypertensive subjects. Methods: We cross-sectionally evaluated 561 patients from 2 independent centers [Campinas (n = 441) and Vitoria (n = 120)] by clinical history, physical examination, anthropometry, analysis of metabolic and echocardiography parameters as well as p22-phox C242T polymorphism genotyping. In addition, NADPH-oxidase activity was quantified in peripheral mononuclear cells from a subgroup of Campinas sample. Results: Genotype frequencies in both samples were consistent with the Hardy-Weinberg equilibrium. Subjects with the T allele presented higher left ventricular mass/height(2.7) than those carrying the CC genotype in Campinas (76.8 +/- 1.6 vs 70.9 +/- 1.4 g/m(2.7); p = 0.009), and in Vitoria (45.6 +/- 1.9 vs 39.9 +/- 1.4 g/m(2.7); p = 0.023) samples. These results were confirmed by stepwise regression analyses adjusted for age, gender, blood pressure, metabolic variables and use of anti-hypertensive medications. In addition, increased NADPH-oxidase activity was detected in peripheral mononuclear cells from T allele carriers compared with CC genotype carriers (p = 0.03). Conclusions: The T allele of the p22-phox C242T polymorphism is associated with higher left ventricular mass/height(2.7) and increased NADPH-oxidase activity in Brazilian hypertensive patients. These data suggest that genetic variation within NADPH-oxidase components may modulate left ventricular remodeling in subjects with systemic hypertension.engopenAccessp22-phoxleft ventriclehypertensionpolymorphismNADPH-oxidasecoronary-artery-diseasep22 phox genenadph oxidasenad(p)h oxidasehypertrophyp22phoxpopulationp22(phox)atherosclerosisvariantThe C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patientsarticleCopyright BIOMED CENTRAL LTD10.1186/1471-2350-12-114Genetics & Heredity