支持血清素转运体基因启动子区域多态性位点与酒精依赖风险的等位基因关联。
Support for allelic association of a polymorphic site in the promoter region of the serotonin transporter gene with risk for alcohol dependence.
作者信息
Lichtermann D, Hranilović D, Trixler M, Franke P, Jernej B, Delmo C D, Knapp M, Schwab S G, Maier W, Wildenauer D B
机构信息
Department of Psychiatry and Medical Psychology, University Medical School of Pécs, Hungary.
出版信息
Am J Psychiatry. 2000 Dec;157(12):2045-7. doi: 10.1176/appi.ajp.157.12.2045.
OBJECTIVE
An association between the 5-HTTLPR short variant polymorphism in the promoter region of the serotonin transporter gene and risk for alcohol dependence has been reported from case-control studies that are, however, prone to chance findings related to artifacts of population structure. The authors sought additional evidence for this association from a family-based study.
METHOD
Ninety-two alcohol-dependent probands and their parents were tested for nonrandom transmission of alleles from heterozygous parents to affected probands.
RESULTS
Preferential transmission of the short allele was found (65 of 102 transmissions from heterozygous parents).
CONCLUSIONS
The results suggest allelic association between a variant in the promoter region of the serotonin transporter gene and the risk for alcohol dependence. However, it remains to be seen whether the functional properties of this variant are directly responsible for the increased risk to alcohol dependence.
目的
病例对照研究报告了血清素转运体基因启动子区域的5-HTTLPR短变体多态性与酒精依赖风险之间的关联，然而，这些研究容易出现与群体结构假象相关的偶然发现。作者从一项基于家系的研究中寻找这种关联的更多证据。
方法
对92名酒精依赖先证者及其父母进行检测，以确定等位基因从杂合子父母向受影响先证者的非随机传递情况。
结果
发现短等位基因存在优先传递现象（102次来自杂合子父母的传递中有65次）。
结论
结果表明血清素转运体基因启动子区域的一个变体与酒精依赖风险之间存在等位基因关联。然而，该变体的功能特性是否直接导致酒精依赖风险增加仍有待观察。
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