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001-es BibID:BIBFORM105961
035-os BibID:(WOS)000296440100011 (Scopus)80054897628
Első szerző:Zsom Marianna
Cím:Genetic polymorphisms and the risk of progressive renal failure in elderly Hungarian patients / Marianna Zsom, Tibor Fülöp, Lajos Zsom, Ákos Baráth, Zoltán Maróti, Emőke Endreffy
Dátum:2011
ISSN:1492-7535 1542-4758
Megjegyzések:The relationship between renal disease progression and genetic polymorphism of enzymes influencing endothelial function remains incompletely understood. We genotyped three cohorts of elderly Hungarian patients: 245 patients with end-stage renal disease (ESRD) on chronic hemodialysis (HD), 88 patients with mild chronic kidney disease (CKD), and 200 healthy controls. The underlying diagnoses of renal diseases were primary glomerulonephritis, interstitial nephritis, hypertension, diabetic nephropathy, and hereditary diseases. We examined genetic polymorphisms of eight candidate genes associated with endothelial function: endothelial constitutive nitric oxide synthase (ecNOS) T-786C, endothelin-1 G5727T, methylenetetrahydrofolate reductase (MTHFR) C677T, paraoxonase-1 Q192R and M55L, angiotensinogen M235T, angiotensin-converting enzyme (ACE) I/D and angiotensin II type 1 receptor A1166C gene. Six gene polymorphisms were detected by real-time polymerase chain reaction with melting-point analysis, and two via allele-specific amplification and gel electrophoresis. Control group patients were in Hardy-Weinberg equilibrium for all tested genotypes. In ESRD patients attributed to hypertension, the endothelin gene G5727T GG genotype occurred significantly less but GT genotype more frequently (P < 0.01 for both). In ESRD patients attributed to primary glomerulonephritis, more ACE DD and less ID genotypes were found (P < 0.02 for both) than in the controls. The underlying diagnosis may modify the association of genetic polymorphism and dialysis-dependent ESRD.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Chronic kidney disease
end-stage renal disease
endothelin
endothelium
genetic polymorphisms
Megjelenés:Hemodialysis International. - 15 : 4 (2011), p. 501-508. -
További szerzők:Fülöp Tibor (1966-) (nefrológus) Zsom Lajos (1968-) (belgyógyász, nefrológus) Baráth Ákos Maróti Zoltán (gyermekgyógyász, Szeged) Endreffy Emőke
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