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首页> 外文OA文献 >Genetic variants in ALDH1B1 and alcohol dependence risk in a British and Irish population: A bioinformatic and genetic study.
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Genetic variants in ALDH1B1 and alcohol dependence risk in a British and Irish population: A bioinformatic and genetic study.

机译：英国和爱尔兰人口中ALDH1B1的遗传变异和酒精依赖风险：一项生物信息学和遗传研究。

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Alcohol is metabolized in the liver via the enzymes alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). Polymorphisms in the genes encoding these enzymes, which are common in East Asian populations, can alter enzyme kinetics and hence the risk of alcohol dependence and its sequelae. One of the most important genetic variants, in this regards, is the single nucleotide polymorphism (SNP) rs671 in ALDH2, the gene encoding the primary acetaldehyde metabolizing enzyme ALDH2. However, the protective allele of rs671 is absent in most Europeans although ALDH1B1, which shares significant sequence homology with ALDH2, contains several, potentially functional, missense SNPs that do occur in European populations. The aims of this study were: (i) to use bioinformatic techniques to characterize the possible effects of selected variants in ALDH1B1 on protein structure and function; and, (ii) to genotype three missense and one stop-gain, protein-altering, non-synonymous SNPs in 1478 alcohol dependent cases and 1254 controls of matched British and Irish ancestry. No significant allelic associations were observed between the three missense SNPs and alcohol dependence risk. The minor allele frequency of rs142427338 (Gln378Ter) was higher in alcohol dependent cases than in controls (allelic P = 0.19, OR = 2.98, [0.62-14.37]) but as this SNP is very rare the study was likely underpowered to detect an association with alcohol dependence risk. This potential association will needs to be further evaluated in other large, independent European populations.
机译：酒精通过乙醇脱氢酶（ADH）和醛脱氢酶（ALDH）在肝脏中代谢。编码这些酶的基因中的多态性在东亚人群中很常见，可以改变酶动力学，从而改变酒精依赖及其后遗症的风险。在这方面，最重要的遗传变异之一是ALDH2中的单核苷酸多态性（SNP）rs671，该基因编码一级乙醛代谢酶ALDH2。但是，尽管ALDH1B1与ALDH2具有显着的序列同源性，但在欧洲大多数人中都没有rs671的保护性等位基因，但它确实包含几种可能在欧洲人群中发生的功能错义SNP。这项研究的目的是：（i）使用生物信息学技术表征ALDH1B1中所选变体对蛋白质结构和功能的可能影响； （ii）在1478例酒精依赖病例和1254例英国和爱尔兰血统相匹配的对照中，对3个错义和1个终止增益，蛋白质改变的非同义SNP进行基因分型。在三个错义SNP与酒精依赖风险之间未观察到明显的等位基因关联。在酒精依赖的病例中，rs142427338（Gln378Ter）的次要等位基因频率高于对照组（等位基因P = 0.19，OR = 2.98，[0.62-14.37]），但由于该SNP非常罕见，因此该研究可能不足以检测关联有酒精依赖风险。这种潜在的联系将需要在其他大量独立的欧洲人群中进行进一步评估。

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