作者: Marianna ZSOM , Tibor FÜLÖP , Lajos ZSOM , Ákos BARÁTH , Zoltán MARÓTI
DOI: 10.1111/J.1542-4758.2011.00593.X
关键词: Hemodialysis 、 Medicine 、 Genotype 、 Endocrinology 、 End stage renal disease 、 Methylenetetrahydrofolate reductase 、 Kidney disease 、 Angiotensin II 、 Diabetic nephropathy 、 Candidate gene 、 Internal medicine
摘要: The relationship between renal disease progression and genetic polymorphism of enzymes influencing endothelial function remains incompletely understood. We genotyped three cohorts elderly Hungarian patients: 245 patients with end-stage (ESRD) on chronic hemodialysis (HD), 88 mild kidney (CKD), 200 healthy controls. underlying diagnoses diseases were primary glomerulonephritis, interstitial nephritis, hypertension, diabetic nephropathy, hereditary diseases. examined polymorphisms eight candidate genes associated function: constitutive nitric oxide synthase (ecNOS) T-786C, endothelin-1 G5727T, methylenetetrahydrofolate reductase (MTHFR) C677T, paraoxonase-1 Q192R M55L, angiotensinogen M235T, angiotensin-converting enzyme (ACE) I/D angiotensin II type 1 receptor A1166C gene. Six gene detected by real-time polymerase chain reaction melting-point analysis, two via allele-specific amplification gel electrophoresis. Control group in Hardy-Weinberg equilibrium for all tested genotypes. In ESRD attributed to the endothelin G5727T GG genotype occurred significantly less but GT more frequently (P < 0.01 both). ACE DD ID genotypes found 0.02 both) than diagnosis may modify association dialysis-dependent ESRD.