Association of a G994 → T (Val279 → phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in japanese patients with nonfamilial hypertrophic cardiomyopathy

Y. Yamada, S. Ichihara, H. Izawa, M. Tanaka, M. Yokota

研究成果: Article査読

25 被引用数 (Scopus)

抄録

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 G994 (V allele) → 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-diastolic and end-systolic dimensions were significantly greater in HCM patients with the FF genotype than in those with the VV genotype. Cardiac catheterization revealed that LV end-diastolic pressure was significantly higher, whereas the LV ejection fraction was significantly smaller, for HCM patients with the F allele than for those with the VV genotype. Interstitial fibrosis was significantly more severe in HCM subjects with the FF genotype than in those with the VV genotype. These results suggest that the G994 → T (Val279 → Phe) polymorphism in the plasma PAF-AH gene may exacerbate cardiac damage in Japanese individuals with nonfamilial HCM, although this polymorphism is unlikely to be a causative factor for this condition.

本文言語English
ページ(範囲)436-441
ページ数6
ジャーナルJournal of Human Genetics
46
8
DOI
出版ステータスPublished - 2001
外部発表はい

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

フィンガープリント

「Association of a G<sup>994</sup> → T (Val<sup>279</sup> → phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in japanese patients with nonfamilial hypertrophic cardiomyopathy」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

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