Brief report: genetics of alcoholic cirrhosis-GenomALC multinational study.
Brief report: genetics of alcoholic cirrhosis-GenomALC multinational study.
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DOI：
10.1111/acer.12693
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发表时间：
2015-05
期刊：
影响因子：
--
通讯作者：
GenomALC Consortium
中科院分区：
文献类型：
--
作者：
Whitfield JB;Rahman K;Haber PS;Day CP;Masson S;Daly AK;Cordell HJ;Mueller S;Seitz HK;Liangpunsakul S;Westerhold C;Liang T;Lumeng L;Foroud T;Nalpas B;Mathurin P;Stickel F;Soyka M;Botwin GJ;Morgan TR;Seth D;GenomALC Consortium
与酒精相关的肝硬变的风险随着酒精消费量的增加而增加，但许多摄入量非常高的人可以逃脱肝病。我们假设酒精性肝硬变的易感性具有复杂的遗传成分，并提出这一点可以通过一项大型的、足够强大的全基因组关联研究(GWAS)来剖析。GenomALC联盟由来自澳大利亚、法国、德国、瑞士、英国和美国的研究人员组成，共同致力于探索酒精性肝硬变的遗传和基因组基础。在这项由美国国立卫生研究院/国家酒精滥用和酒精中毒研究所资助的研究中，我们招募了高危饮酒者，他们要么是酒精性肝硬化症患者，要么是对照组(在类似时间内饮酒数量相当，但没有重大肝病)。使用半结构化访谈和患者记录获得广泛的表型数据，并收集血液样本。截至2014年9月，我们使用特定研究的纳入-排除标准和数据收集方案，成功招募了859名参与者，其中包括538个匹配的病例对照样本。在这些病例中，有580例(442名男性和138名女性)和279名对照(205名男性和74名女性)。在病例中，过度饮酒的持续时间略长于对照组，而女性的过量饮酒持续时间明显少于男性。患者的终生酒精摄入量显著低于对照组。病例和对照组都有很高的父母报告的酒精问题的患病率，但病例更有可能报告有酒精问题的父亲死于肝病(优势比2.53，95%可信区间1.31至4.87，p=0.0055)。事实证明，在有多个地点的国家招募酒精性肝硬化性肝炎的参与者是可行的。受影响的患者通常比未受影响的患者饮酒更少，强调了个体脆弱因素的存在。与对照组相比，有酒精问题的父亲更有可能报告患有肝病，这与酒精性肝硬变风险的潜在基因成分一致。
The risk of alcohol‐related liver cirrhosis increases with increasing alcohol consumption, but many people with very high intake escape from liver disease. We postulate that susceptibility to alcoholic cirrhosis has a complex genetic component and propose that this can be dissected through a large and sufficiently powered genomewide association study (GWAS). The GenomALC Consortium comprises researchers from Australia, France, Germany, Switzerland, United Kingdom, and United States, with a joint aim of exploring the genetic and genomic basis of alcoholic cirrhosis. For this National Institutes of Health/National Institute on Alcohol Abuse and Alcoholism funded study, we are recruiting high‐risk drinkers who are either cases (with alcoholic cirrhosis) or controls (drinking comparable amounts over similar time, but free of significant liver disease). Extensive phenotypic data are obtained using semistructured interviews and patient records, and blood samples are collected. We have successfully recruited 859 participants including 538 matched case–control samples as of September 2014, using study‐specific inclusion–exclusion criteria and data collection protocols. Of these, 580 are cases (442 men and 138 women) and 279 are controls (205 men and 74 women). Duration of excessive drinking was slightly greater in cases than controls and was significantly less in women than men. Cases had significantly lower lifetime alcohol intake than controls. Both cases and controls had a high prevalence of reported parental alcohol problems, but cases were significantly more likely to report that a father with alcohol problems had died from liver disease (odds ratio 2.53, 95% confidence interval 1.31 to 4.87, p = 0.0055). Recruitment of participants for a GWAS of alcoholic cirrhosis has proved feasible across countries with multiple sites. Affected patients often consume less alcohol than unaffected ones, emphasizing the existence of individual vulnerability factors. Cases are more likely to report liver disease in a father with alcohol problems than controls, consistent with a potential genetic component to the risk of alcoholic cirrhosis.
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影响因子：
24.5
作者：
Bellentani, S;Saccoccio, G;Sassatelli, R
通讯作者：
Sassatelli, R
影响因子：
7.7
作者：
TUYNS, AJ;PEQUIGNOT, G
通讯作者：
PEQUIGNOT, G
DOI：
10.1111/j.1530-0277.1998.tb03685.x
发表时间：
1998-04-01
影响因子：
3.2
作者：
Caetano, R;Clark, L
通讯作者：
Clark, L
影响因子：
25.7
作者：
Trepo, Eric;Gustot, Thierry;Moreno, Christophe
通讯作者：
Moreno, Christophe
影响因子：
13.5
作者：
Naveau, S;Giraud, V;Chaput, JC
通讯作者：
Chaput, JC