Bjerregaard Peter, Mikkelsen Stine Schou, Becker Ulrik, Hansen Torben, Tolstrup Janne S
National Institute of Public Health, University of Southern Denmark, Øster Farimagsgade 5A, 1353 Copenhagen K, Denmark; Greenland Centre for Health Research, University of Greenland, 3900 Nuuk, Greenland.
National Institute of Public Health, University of Southern Denmark, Øster Farimagsgade 5A, 1353 Copenhagen K, Denmark.
Drug Alcohol Depend. 2014 Nov 1;144:239-44. doi: 10.1016/j.drugalcdep.2014.09.774. Epub 2014 Sep 28.
Variation in genes involved in alcohol metabolism is associated with drinking patterns worldwide. We compared variation in these genes among the Inuit with published results from the general population of Denmark and, due to the Asian ancestry of the Inuit, with Han Chinese. We analyzed the association between gene variations and drinking patterns among the Inuit.
We genotyped 4162 Inuit participants from two population health surveys. Information on drinking patterns was available for 3560. Seven single nucleotide polymorphisms (SNPs) were examined: ADH1B arg48his, ADH1C ile350val, ADH1C arg272gln, ALDH2 glu504lys, ALDH2 5'-UTR A-357G, ALDH1B1 ala86val and ALDH1B1 arg107leu.
The allele distribution differed significantly between Inuit and the general population of Denmark. A protective effect on heavy drinking was found for the TT genotype of the ALDH1B1 arg107leu SNP (OR=0.59; 95% CI 0.37-0.92), present in 3% of pure Inuit and 37% of Danes. The ADH1C GG genotype was associated with heavy drinking and a positive CAGE test (OR 1.34; 95% CI 1.05-1.72). It was present in 27% of Inuit and 18% of Danes. The Asian genotype pattern with a high frequency of the ADH1B A allele and an ALDH2 gene coding for an inactive enzyme was not present in Greenland.
ADH1C and ALDH1B1 arg107leu SNPs play a role in the shaping of drinking patterns among the Inuit in Greenland. A low frequency of the ALDH1B1 arg107leu TT genotype compared with the general population in Denmark deserves further study. This genotype was protective of heavy drinking among the Inuit.
参与酒精代谢的基因变异与全球饮酒模式相关。我们比较了因纽特人这些基因的变异情况与丹麦普通人群已发表的结果，并且由于因纽特人有亚洲血统，还与汉族人群进行了比较。我们分析了因纽特人基因变异与饮酒模式之间的关联。
我们对来自两项人群健康调查的4162名因纽特参与者进行了基因分型。有3560人提供了饮酒模式信息。检测了7个单核苷酸多态性（SNP）：ADH1B基因的arg48his、ADH1C基因的ile350val、ADH1C基因的arg272gln、ALDH2基因的glu504lys、ALDH2基因5'-UTR区域的A-357G、ALDH1B1基因的ala86val以及ALDH1B1基因的arg107leu。
因纽特人与丹麦普通人群的等位基因分布存在显著差异。发现ALDH1B1基因arg107leu SNP的TT基因型对重度饮酒有保护作用（OR = 0.59；95%可信区间0.37 - 0.92），该基因型在3%的纯因纽特人和37%的丹麦人中存在。ADH1C基因的GG基因型与重度饮酒及CAGE测试阳性相关（OR 1.34；95%可信区间1.05 - 1.72）。它在27%的因纽特人和18%的丹麦人中存在。格陵兰岛不存在ADH1B基因A等位基因频率高且ALDH2基因编码无活性酶的亚洲基因型模式。
ADH1C基因和ALDH1B1基因的arg107leu SNP在格陵兰因纽特人的饮酒模式形成中起作用。与丹麦普通人群相比，ALDH1B1基因arg107leu TT基因型频率较低值得进一步研究。该基因型对因纽特人的重度饮酒有保护作用。
