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Polymorphism study of nine SNPs associated with subjective response to alcohol in Chinese Han, Hui, Tibetan, Mongolian and Uygur populations

机译:中国汉族,回族,藏族,蒙古族和维吾尔族人群与酒精主观反应相关的9个SNP的多态性研究

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ABSTRACTHeavy alcohol drinking is a major public health problem, causing a large disease, social and economic burden in societies. Subjective response (SR) to alcohol is an intermediate characteristic of heavy drinking. A variety of candidate genes have been reported to be associated with SR to alcohol. In this study, we investigated nine single nucleotide polymorphisms (SNPs) related to SR to alcohol in healthy individuals from five Chinese ethnic groups, the Han, Hui, Tibetan, Mongolian and Uygur populations, and a total of 584 bloodstain samples were collected. The nine SNPs included four SNPs in alcohol-metabolizing genes (ADH1B , ADH1C , ALDH2 and CYP2E1*5B ) and five SNPs in genes of neurobiological pathways (GABRA2 , OPRM1 , CHRNA3 , HYKK and SLC6A4 ). A SNaPshot analysis method was developed to type these SNPs simultaneously, and all samples were typed successfully. Statistical analyses of the allele frequencies indicated that the frequencies of all SNPs, except for ADH1C , showed varying degrees of difference in the five studied ethnic groups. Tibetans showed the highest frequencies of risk alleles for heavy drinking at most loci. The genetic polymorphic differences found in this study revealed the variation in genetic susceptibility to heavy drinking in the studied populations.
机译:酗酒是一个重大的公共卫生问题,在社会上造成了巨大的疾病,社会和经济负担。对酒精的主观反应(SR)是大量饮酒的中间特征。据报道,多种候选基因与酒精对SR有关。在这项研究中,我们调查了来自五个汉族,回族,藏族,蒙古族和维吾尔族的健康人群中与酒精相关的SR与酒精相关的9个单核苷酸多态性(SNP),共收集了584个血迹样本。这9个SNP包括酒精代谢基因( ADH1B, ADH1C, ALDH2和 CYP2E1 * 5B)中的4个SNP和神经生物学途径基因( GABRA2, OPRM1,CHRNA3,HYKK和SLC6A4)。开发了一种SNaPshot分析方法,可同时对这些SNP进行分型,并且所有样品均已成功分型。对等位基因频率的统计分析表明,除ADH1C以外,所有SNP的频率在五个研究族裔中均显示出不同程度的差异。藏族人在大多数地方显示出大量饮酒的高风险等位基因频率。这项研究发现的遗传多态性差异揭示了研究人群中重度饮酒的遗传易感性差异。

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