Replication of genome wide association studies of alcohol dependence: support for association with variation in ADH1C.
Replication of genome wide association studies of alcohol dependence: support for association with variation in ADH1C.
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DOI：
10.1371/journal.pone.0058798
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Karpyak VM
中科院分区：
文献类型：
--
作者：
Biernacka JM;Geske JR;Schneekloth TD;Frye MA;Cunningham JM;Choi DS;Tapp CL;Lewis BR;Drews MS;L Pietrzak T;Colby CL;Hall-Flavin DK;Loukianova LL;Heit JA;Mrazek DA;Karpyak VM
全基因组关联研究揭示了许多与复杂性状相关的单核苷酸多态现象。尽管这些研究经常无法确定具有统计学意义的关联，但来自GWAS的顶级关联信号可能会被丰富，以获得真正的关联。因此，我们研究了酒精依赖与43个SNP之间的关联，这些SNP是从前两期发表的酒精中毒的关联信号中挑选出来的。我们对808例酒精依赖病例和1,248名对照的分析提供了酒精依赖与ADH1C基因(未调整的p = 0.0017)rs1614972单核苷酸之间存在关联的证据。因为最初报告酒精依赖与这种SNP相关的Gwas研究只包括男性，我们也在性别特定的层面进行了分析。结果表明，该单核苷酸多态性对男性和女性具有相似的影响(男性或(95%CI) = 0.80(0.66，0.95)；女性：或(95%CI) = 0.83(0.66，1.03))。我们还观察到rs1614972小等位基因在非酒精对照组中与较低的饮酒量相关的边缘证据(p = 0.081)，在酒精依赖病例中独立存在(p = 0.046)。尽管前一次GWAS调查的样本与当前研究之间存在许多潜在的差异，但这里提供的数据为ADH1C中的SNP rs1614972与酒精依赖之间的关联提供了额外的支持，并通过证明与非酒精依赖者和酒精依赖人群的消费水平之间的关联来扩展这一发现。进一步的研究应该调查该基因的其他多态与酒精依赖和相关的酒精使用表型之间的关联。
Genome-wide association studies (GWAS) have revealed many single nucleotide polymorphisms (SNPs) associated with complex traits. Although these studies frequently fail to identify statistically significant associations, the top association signals from GWAS may be enriched for true associations. We therefore investigated the association of alcohol dependence with 43 SNPs selected from association signals in the first two published GWAS of alcoholism. Our analysis of 808 alcohol-dependent cases and 1,248 controls provided evidence of association of alcohol dependence with SNP rs1614972 in the ADH1C gene (unadjusted p = 0.0017). Because the GWAS study that originally reported association of alcohol dependence with this SNP included only men, we also performed analyses in sex-specific strata. The results suggest that this SNP has a similar effect in both sexes (men: OR (95%CI) = 0.80 (0.66, 0.95); women: OR (95%CI) = 0.83 (0.66, 1.03)). We also observed marginal evidence of association of the rs1614972 minor allele with lower alcohol consumption in the non-alcoholic controls (p = 0.081), and independently in the alcohol-dependent cases (p = 0.046). Despite a number of potential differences between the samples investigated by the prior GWAS and the current study, data presented here provide additional support for the association of SNP rs1614972 in ADH1C with alcohol dependence and extend this finding by demonstrating association with consumption levels in both non-alcoholic and alcohol-dependent populations. Further studies should investigate the association of other polymorphisms in this gene with alcohol dependence and related alcohol-use phenotypes.
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影响因子：
3.9
作者：
Kosoy, Roman;Nassir, Rami;Tian, Chao;White, Phoebe A.;Butler, Lesley M.;Silva, Gabriel;Kittles, Rick;Alarcon-Riquelme, Marta E.;Gregersen, Peter K.;Belmont, John W.;De La Vega, Francisco M.;Seldin, Michael F.
通讯作者：
Seldin, Michael F.
DOI：
10.1111/j.1530-0277.2008.00888.x
发表时间：
2009-04
期刊：
Alcoholism, clinical and experimental research
影响因子：
--
作者：
Karpyak VM;Kim JH;Biernacka JM;Wieben ED;Mrazek DA;Black JL;Choi DS
通讯作者：
Choi DS
影响因子：
30.8
作者：
通讯作者：
--
酒精依赖性与ADH基因簇中的变体之间的全基因组显着关联。
影响因子：
3.4
作者：
Frank J;Cichon S;Treutlein J;Ridinger M;Mattheisen M;Hoffmann P;Herms S;Wodarz N;Soyka M;Zill P;Maier W;Mössner R;Gaebel W;Dahmen N;Scherbaum N;Schmäl C;Steffens M;Lucae S;Ising M;Müller-Myhsok B;Nöthen MM;Mann K;Kiefer F;Rietschel M
通讯作者：
Rietschel M
抗凝剂，凝血蛋白，纤维蛋白水解和先天免疫途径中的遗传变异是静脉血栓栓塞的危险因素。
DOI：
10.1111/j.1538-7836.2011.04272.x
发表时间：
2011-06
期刊：
Journal of thrombosis and haemostasis : JTH
影响因子：
--
作者：
Heit JA;Cunningham JM;Petterson TM;Armasu SM;Rider DN;DE Andrade M
通讯作者：
DE Andrade M