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一项基于家系的分析,探究血清素转运体基因HTT的功能性启动子等位基因是否会影响酒精依赖风险。

A family-based analysis of whether the functional promoter alleles of the serotonin transporter gene HTT affect the risk for alcohol dependence.

作者信息

Edenberg H J, Reynolds J, Koller D L, Begleiter H, Bucholz K K, Conneally P M, Crowe R, Goate A, Hesselbrock V, Li T K, Nurnberger J I, Porjesz B, Reich T, Rice J P, Schuckit M, Tischfield J A, Foroud T

机构信息

Indiana University School of Medicine, Indianapolis 46202-5122, USA.

出版信息

Alcohol Clin Exp Res. 1998 Aug;22(5):1080-5.

PMID:9726278
Abstract

A population association between a regulatory variation in the promoter of the serotonin transporter gene (HTT) and severe alcohol dependence was recently reported. We analyzed this potential association in a large number of systematically ascertained families in the United States; these families had at least three first-degree relatives who were alcohol-dependent. Analyses focused on individuals defined as alcohol-dependent by criteria from ICD-10 and on subsets of these individuals reporting withdrawal-related symptoms. Application of the transmission disequilibrium test did not provide support for either linkage or association between this functional polymorphism and alcohol dependence; there was no significant bias in the transmission of either allele to the alcohol-dependent offspring. We also report that African Americans differ from Caucasians in allele frequencies for this polymorphism.

摘要

最近有报道称,血清素转运体基因(HTT)启动子区域的调控变异与严重酒精依赖之间存在群体关联。我们在美国大量系统确定的家庭中分析了这种潜在关联;这些家庭至少有三名一级亲属患有酒精依赖症。分析聚焦于根据国际疾病分类第十版(ICD - 10)标准被定义为酒精依赖的个体,以及报告有戒断相关症状的这些个体的子集。传递不平衡检验的应用并未支持这种功能多态性与酒精依赖之间的连锁或关联;任一等位基因向酒精依赖后代的传递均无显著偏差。我们还报告称,在这种多态性的等位基因频率方面,非裔美国人与白种人存在差异。

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