Paulina Całka, Marzanna Ciesielka, Grzegorz Teresiński
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引用次数: 0
Abstract
Background: Environmental and genetic (in approximately 50%) factors are responsible for the development of alcohol abuse and dependence. The main genes responsible for the risk of harmful alcohol consumption are the genes encoding the enzymes of ethanol metabolism in the human body. Ethyl alcohol is oxidized to acetaldehyde by alcohol dehydrogenases found in the liver (ADH1B, ADH1C and ADH4) and stomach (ADH7). Gastric metabolism of ethanol is able to reduce the amount of alcohol reaching the bloodstream by up to 10% of the dose taken. ADH7 gene variations could be associated as the risk of developing alcohol abuse and dependence.
Aim: Analysis of tag SNPs in the ADH7 gene and determination of the relationship between those variants and the risk of developing alcohol abuse and dependence in the Polish population.
Material and methods: Blood samples from 159 autopsies from alcohol abusers and/or addicts and 201 buccal swabs taken from controls. Genotyping was performed using the Real Time PCR method with TaqMan probes on 3 tag SNPs: rs284786, rs1154470 (within the ADH7 gene) and rs7690269 (from the intergenic region). The obtained genotypes were randomly verified by Sanger sequencing.
Results and conclusions: The results of the performed statistical analyses of the obtained genotypes did not confirm the relationship between the above-mentioned variants and a risk of developing problems with alcohol consumption, based on samples from the Polish population.
背景:环境和遗传因素(约占50%)是导致酒精滥用和依赖的原因。导致有害饮酒风险的主要基因是编码人体乙醇代谢酶的基因。乙醇被肝脏(ADH1B, ADH1C和ADH4)和胃(ADH7)中的酒精脱氢酶氧化为乙醛。胃对乙醇的代谢能够将到达血液的酒精量减少10%。ADH7基因变异可能与酒精滥用和依赖的风险有关。目的:分析波兰人群中ADH7基因的标签snp,并确定这些变异与酒精滥用和依赖风险之间的关系。材料和方法:159例酒精滥用者和/或成瘾者尸体解剖的血液样本和对照组201例口腔拭子样本。采用Real Time PCR方法,用TaqMan探针对3个标签snp进行基因分型:rs284786、rs1154470(位于ADH7基因内)和rs7690269(来自基因间区)。得到的基因型随机进行Sanger测序验证。结果和结论:对获得的基因型进行统计分析的结果,根据波兰人口的样本,没有证实上述变异与出现饮酒问题的风险之间的关系。
期刊介绍:
Archiwum Medycyny Sądowej i Kryminologii przyjmuje w języku polskim: prace doświadczalne, poglądowe, kazuistyczne, artykuły o charakterze szkoleniowym z medycyny sądowej, kryminologii i dziedzin pokrewnych, opracowania z zakresu etyki i deontologii lekarskiej, streszczenia prac obcych, oceny książek, sprawozdania z działalności PTMSiK, sprawozdania ze zjazdów krajowych i zagranicznych, komunikaty Zarządu Głównego PTMSiK, listy do Redakcji. Autor powinien podać, do jakiej kategorii zalicza tekst nadesłanej pracy. Przyjmowane do druku będą również prace autorów zagranicznych w języku angielskim.