Endothelial nitric oxide synthase gene intron 4 variable number tandem repeat polymorphism in β-thalassemia major: relation to cardiovascular complications.

摘要: Endothelial nitric oxide synthase (eNOS), an enzyme that generates oxide, is a major determinant of endothelial function. Several eNOS gene polymorphisms have been reported as 'susceptibility genes' in various human diseases states, including cardiovascular, pulmonary and renal diseases. We studied the 27-base pair tandem repeat polymorphism intron 4 60 β-thalassemia (β-TM) patients compared with healthy controls assessed its role subclinical atherosclerosis vascular complications. Patients were evaluated stressing on transfusion history, splenectomy, thrombotic events, echocardiography carotid intima-media thickness (CIMT). Analysis was performed by PCR. No significant difference found between β-TM regard to distribution eNOS4 alleles or genotypes. The frequency eNOS4a allele (aa ab genotypes) significantly higher hypertension cardiomyopathy. Logistic regression analysis revealed independent risk factor for [odds ratio (OR) 2.2, 95% confidence interval (95% CI) 1.19-5.6; P < 0.001]. suggest related dysfunction could be possible genetic marker prediction increased susceptibility cardiovascular