Chinese Academy of Medical Sciences, Beijing, China.
Am J Clin Nutr. 2013 Mar;97(3):545-51. doi: 10.3945/ajcn.112.046482. Epub 2013 Jan 30.
Alcohol consumption is heritable, but genetic susceptibility to drinking behavior has not been investigated widely in genome-wide association studies.
We aimed to identify susceptibility loci for drinking behavior (drinkers compared with nondrinkers) in Han Chinese.
We performed 2 genome-wide association studies including 1420 drinkers and 3590 nondrinkers in discovery, followed by a de novo replication analysis comprising 4896 drinkers and 13,293 nondrinkers. DNA samples of the subjects were collected for genotyping.
The association results of drinking behavior (drinkers or nondrinkers) showed a cluster of single nucleotide polymorphisms at 12q24 in discovery (P < 5 × 10(-8)), with the strongest association for rs11066280 near C12orf51 (P-combined = 3.26 × 10(-215)). Moreover, we observed the association with drinking behavior for a functional variant in ALDH2 at 12q24 (rs671, P-discovery = 5.17 × 10(-35)). We also identified the association between rs11066280 and daily alcohol intake among drinkers (P-combined = 4.01 × 10(-21)).
Our data indicate that common variants at 12q24 may contribute to the susceptibility of drinking behavior in Han Chinese.
饮酒是可遗传的，但饮酒行为的遗传易感性尚未在全基因组关联研究中广泛研究。
我们旨在确定汉族人群饮酒行为（饮酒者与非饮酒者相比）的易感基因座。
我们进行了两项全基因组关联研究，包括发现阶段的 1420 名饮酒者和 3590 名非饮酒者，然后进行了一项新的复制分析，包括 4896 名饮酒者和 13293 名非饮酒者。收集了研究对象的 DNA 样本进行基因分型。
饮酒行为（饮酒者或非饮酒者）的关联结果显示，在发现阶段，12q24 处存在单核苷酸多态性簇（P<5×10(-8)），rs11066280 位于 C12orf51 附近的最强关联（P-综合=3.26×10(-215)）。此外，我们还观察到 12q24 处 ALDH2 中的功能变异 rs671 与饮酒行为的关联（P-发现=5.17×10(-35)）。我们还确定了 rs11066280 与饮酒者每日饮酒量之间的关联（P-综合=4.01×10(-21)）。
我们的数据表明，12q24 上的常见变异可能导致汉族人群饮酒行为的易感性。
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