Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Alcohol Clin Exp Res. 2012 May;36(5):900-5. doi: 10.1111/j.1530-0277.2011.01680.x. Epub 2011 Dec 7.
Several genetic polymorphisms influence the risk of heavy alcohol consumption but it is not well understood whether the genetic effects are similar in different populations and drinking cultures, nor whether the genetic influences on binge drinking are similar to those seen for alcoholism.
We have analyzed the effect of the Arg47His (rs1229984) variant within the alcohol dehydrogenase (ADH1B) gene on a range of drinking related variables in a large Eastern European Slavic population (Czech HAPIEE study), which recruited random samples of men and women aged 45-69 years in 7 Czech towns (3,016 males and 3,481 females with complete data). Drinking frequency, annual alcohol intake, prevalence of binge drinking (≥100 g in men and ≥60 g in women at least once a month) and the mean dose of alcohol per occasion were measured by the graduated frequency questionnaire. Alcohol intake in a typical week was used to define heavy drinking (≥350 g/wk in men and ≥210 g in women). Problem drinking (≥2 positive answers on CAGE) and negative consequences of drinking on different aspects of life were also measured.
The frequency of the His47 allele carriers was 11%. Homozygotes in the common allele (Arg47Arg), among both males and females, had significantly higher drinking frequency, and annual and weekly intake of alcohol than His47 carriers. The odds ratio of heavy drinking in Arg47Arg homozygotes versus His47 carriers was 2.1 (95% confidence intervals 1.1-3.2) in men and 2.2 (1.0-4.7) in women. In females, but not in males, Arg47Arg homozygotes had marginally significantly higher prevalence of binge drinking and mean alcohol dose per drinking session. There was no consistent association with problem drinking and negative consequences of drinking.
The ADH1B genotype was associated with the frequency and volume of drinking but its associations with binge drinking and problem drinking were less consistent.
几种遗传多态性影响大量饮酒的风险，但人们并不清楚这些遗传效应在不同人群和饮酒文化中是否相似，也不清楚酒精代谢相关基因对 binge drinking 的遗传影响是否与对酗酒的遗传影响相似。
我们分析了在一个大型东欧斯拉夫人群（捷克 HAPIEE 研究）中，酒精脱氢酶（ADH1B）基因中的 Arg47His（rs1229984）变体对一系列饮酒相关变量的影响，该研究在捷克的 7 个城镇招募了 45-69 岁的男性和女性随机样本（3016 名男性和 3481 名女性有完整数据）。通过酒精使用问卷（graduated frequency questionnaire）测量饮酒频率、每年的酒精摄入量、 binge drinking（男性每月至少一次饮酒 100g 以上，女性至少 60g 以上）的流行率以及每次饮酒的平均酒精剂量。每周的平均饮酒量用于定义重度饮酒（男性每周 350g 以上，女性每周 210g 以上）。还测量了饮酒问题（CAGE 问卷有 2 个以上阳性回答）和饮酒对生活不同方面的负面影响。
His47 等位基因携带者的频率为 11%。男性和女性中常见等位基因（Arg47Arg）的纯合子的饮酒频率、每年和每周的酒精摄入量明显高于 His47 携带者。Arg47Arg 纯合子与 His47 携带者相比，男性重度饮酒的比值比为 2.1（95%置信区间 1.1-3.2），女性为 2.2（1.0-4.7）。在女性中，但在男性中没有，Arg47Arg 纯合子 binge drinking 的流行率和每次饮酒的平均酒精剂量略高。与饮酒问题和饮酒的负面影响没有一致的关联。
ADH1B 基因型与饮酒频率和饮酒量有关，但与 binge drinking 和饮酒问题的关联不太一致。
