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ALDH2 和 ADH1B 多态性在汉族人群中饮酒与卒中的关系。

The role of ALDH2 and ADH1B polymorphism in alcohol consumption and stroke in Han Chinese.

机构信息

Department of Surgery, Cathay General Hospital, Taipei, Taiwan.

出版信息

Hum Genomics. 2011 Oct;5(6):569-76. doi: 10.1186/1479-7364-5-6-569.

Abstract

The genes encoding the enzymes for metabolising alcohol dehydrogenase 1B (ADH1B) and aldehyde dehydrogenase 2 (ALDH2) - exhibit genetic polymorphism and ethnic variations. Although the ALDH22 variant allele has been widely accepted as protecting against the development of alcoholism in Asians, the association of the ADH1B2 variant allele with drinking behaviour remains inconclusive. The goal of this study was to determine whether the polymorphic ADH1B and ALDH2 genes are associated with stroke in male Han Chinese with high alcohol consumption. Sixty-five stroke patients with a history of heavy drinking (HDS) and 83 stroke patients without such a history (NHDS) were recruited for analysis of the ADH1B and ALDH2 genotypes from the stroke registry in the Tri-Service General Hospital, Taipei, Taiwan, between January 2000 and December 2001. The allelotypes of ADH1B and ALDH2 were determined using the polymerase chain reaction-restriction fragment length polymorphism method. The HDS patients (3 per cent) showed a significantly lower ALDH22 allele frequency than NHDS patients (27 per cent) (p < 0.001). After controlling for age, patients with HDS were associated with a significantly higher occurrence of cigarette smoking (p < 0.01) and liver dysfunction (p < 0.01). Multiple logistic regression analyses revealed that the ALDH22 variant allele was an independent variable exhibiting strong protection (odds ratio 0.072; 95 per cent confidence interval 0.02-0.26) against HDS after adjustment for hypertension, diabetes mellitus, smoking status and liver dysfunction. By contrast, allelic variations in ADH1B exerted no significant effect on HDS. The present study indicated that, unlike ALDH22, ADH1B2 appears not to be a significant negative risk factor for high alcohol consumption in male Han Chinese with stroke.

摘要

编码代谢酒精脱氢酶 1B(ADH1B)和醛脱氢酶 2(ALDH2)的基因表现出遗传多态性和种族差异。虽然 ALDH22 变体等位基因已被广泛认为可预防亚洲人酗酒,但 ADH1B2 变体等位基因与饮酒行为的关联仍不确定。本研究的目的是确定在饮酒量高的汉族男性中,多态性 ADH1B 和 ALDH2 基因是否与中风有关。2000 年 1 月至 2001 年 12 月,我们从台湾三军总医院中风登记处招募了 65 名有大量饮酒史(HDS)的中风患者和 83 名无此类病史的中风患者(NHDS),用于分析 ADH1B 和 ALDH2 基因型。使用聚合酶链反应-限制性片段长度多态性方法确定 ADH1B 和 ALDH2 的等位基因。HDS 患者(3%)的 ALDH22 等位基因频率明显低于 NHDS 患者(27%)(p<0.001)。在控制年龄后,HDS 患者的吸烟(p<0.01)和肝功能障碍(p<0.01)发生率显著更高。多因素逻辑回归分析显示,ALDH22 变体等位基因是一个独立的变量,在调整高血压、糖尿病、吸烟状况和肝功能障碍后,对 HDS 具有很强的保护作用(比值比 0.072;95%置信区间 0.02-0.26)。相比之下,ADH1B 的等位基因变异对 HDS 没有显著影响。本研究表明,与 ALDH22 不同,ADH1B2 似乎不是汉族中风患者大量饮酒的重要负风险因素。

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