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001-es BibID:	BIBFORM065207
Első szerző:	Fazakas Ádám
Cím:	Genetic predisposition in patients with hypertension and normal ejection fraction to oxidative stress / Fazakas Ádám, Szelényi Zsuzsanna, Szénási Gábor, Nyírő Gábor, Szabó Péter M., Patócs Attila, Tegze Narcis, Fekete Bertalan C., Molvarec Attila, Nagy Bálint, Jakus Judit, Örsi Ferenc, Karádi István, Vereckei András
Dátum:	2016
ISSN:	1933-1711 1878-7436
Megjegyzések:	The role of oxidative stress (OXS) due to myocardial nitric oxide synthase (NOS) uncoupling related to oxidative depletion of its cofactor tetrahydrobiopterin (BH4) emerged in the pathogenesis of heart failure with preserved ejection fraction. We determined the prevalence of six single nucleotide polymorphisms (SNPs) of genes encoding enzymes related to OXS, BH4 metabolism, and NOS function in ?60-year-old 94 patients with hypertension and 18 age-matched controls with normal ejection fraction. Using echocardiography, 56/94 (60%) patients with hypertension had left ventricular (LV) diastolic dysfunction (HTDD+ group) and 38/94 (40%) patients had normal LV diastolic function (HTDD? group). Four SNPs (rs841, rs3783641, rs10483639, and rs807267) of guanosine triphosphate cyclohydrolase-1, the rate-limiting enzyme in BH4 synthesis, one (rs4880) of manganese superoxide dismutase, and one (rs1799983) of endothelial NOS genes were genotyped using real-time polymerase chain reaction method and Taqman probes. Protein carbonylation, BH4, and total biopterin levels were measured from plasma samples. No between-groups difference in minor allele frequency of SNPs was found. We calculated a genetic score indicating risk for OXS based on the minor allele frequencies of the SNPs. A high genetic risk for OXS was significantly associated with HTDD+ even after adjustment for confounding variables (odds ratio [95% confidence interval]:4.79 [1.12?20.54]; P = .035). In both patient groups protein carbonylation (P < .05 for both), plasma BH4 (P < .01 for both) and in the HTDD+ group total biopterin (P < .05) increased versus controls. In conclusion, in patients with hypertension and normal ejection fraction, a potential precursor of heart failure with preserved ejection fraction, a partly genetically determin
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban heart failure Hypertension oxidative stress
Megjelenés:	Journal of the American Society of Hypertension 10 : 2 (2016), p. 124-132. -
További szerzők:	Szelényi Zsuzsanna Szénási Gábor Nyírő Gábor (molekuláris biológus) Szabó Péter M. Patócs Attila Tegze, Narcis Fekete Bertalan C. Molvarec Attila (szülész-nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Jakus Judit Örsi Ferenc Karádi István (1952-) (belgyógyász, kardiológus) Vereckei András
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