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Titolo:
Association of a G(994) -> T (Val(279) -> Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy
Autore:
Yamada, Y; Ichihara, S; Izawa, H; Tanaka, M; Yokota, M;
Indirizzi:
Gifu Int Inst Biotechnol, Dept Gene Therapy, Mitake, Kani 5050116, Japan Gifu Int Inst Biotechnol Mitake Kani Japan 5050116 e, Kani 5050116, Japan Nagoya Univ, Grad Sch Med, Div Cardiovasc, Dept Pathophysiol, Nagoya, Aichi, Japan Nagoya Univ Nagoya Aichi Japan , Dept Pathophysiol, Nagoya, Aichi, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 8, volume: 46, anno: 2001,
pagine: 436 - 441
SICI:
1434-5161(2001)46:8<436:AOAG-T>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
LEFT-VENTRICULAR HYPERTROPHY; ACETYL GLYCERYL ETHER; PROTEIN-C GENE; MISSENSE MUTATION; DILATED CARDIOMYOPATHY; FREQUENCY RELATIONS; FORCE-FREQUENCY; MOLECULAR-BASIS; FACTOR RECEPTOR; HUMAN HEART;
Keywords:
platelet-activating factor; PAF acetylhydrolase; polymorphism; hypertrophic cardiomyopathy; cardiac function; oxidized phospholipids;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Yamada, Y Gifu Int Inst Biotechnol, Dept Gene Therapy, Yagi Mem Pk,2193-128 Mitake, Mitake, Kani 5050116, Japan Gifu Int Inst Biotechnol Yagi Mem Pk,2193-128 Mitake Mitake Kani Japan 5050116
Citazione:
Y. Yamada et al., "Association of a G(994) -> T (Val(279) -> Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy", J HUM GENET, 46(8), 2001, pp. 436-441

Abstract

Plasma platelet-activating factor acetylhydrolase (PAF-AH) acts as a key defense against oxidative stress by hydrolyzing PAF and oxidized phospholipids. Deficiency of the activity of this enzyme may thus potentially result in predisposition to myocardial damage. The possible role of the G(994) (Vallele) --> T (F allele) polymorphism of the PAF-AH gene in modulating cardiac function was investigated in 142 Japanese subjects with nonfamilial hypertrophic cardiomyopathy (HCM). Logistic regression analysis adjusted for age, sex, height, and body weight revealed that the frequency of the F allele was significantly higher in HCM patients than in 284 healthy controls. Echocardiographic examination revealed that left ventricular (LV) end-diastolicand end-systolic dimensions were significantly greater in HCM patients with the FF genotype than in those with the FF genotype. Cardiac catheterization revealed that LV end-diastolic pressure was significantly higher, whereas the LV ejection fraction was significantly smaller, for HCM patients withthe F allele than for those with the FF genotype. Interstitial fibrosis was significantly more severe in HCM subjects with the FF genotype than in those with the FF genotype. These results suggest that the G(994) --> T (Val(279) --> Phe) polymorphism in the plasma PAF-AH gene may exacerbate cardiacdamage in Japanese individuals with nonfamilial HCM, although this polymorphism is unlikely to be a causative factor for this condition.

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Documento generato il 05/12/20 alle ore 19:23:49