Meta-analysis of the association between two polymorphisms in the serotonin transporter gene and affective disorders
Meta-analysis of the association between two polymorphisms in the serotonin transporter gene and affective disorders
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DOI：
10.1016/j.ajmg.b.30104
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发表时间：
2005-02-05
影响因子：
2.8
通讯作者：
Tsuang, MT
中科院分区：
文献类型：
--
作者：
Lasky-Su, JA;Faraone, SV;Tsuang, MT
家庭、双胞胎和收养研究表明，包括双相情感障碍（BP）和单相情感障碍（UP）在内的精神疾病有很大的遗传成分。对于这些疾病，积极和消极的协会已被报道位于5-羟色胺转运蛋白基因（5-HTT）的17号染色体上的两个多态性：一个17碱基对（bp）的可变数目串联重复序列（VNTR）的内含子2和44 bp的插入/缺失的启动子区域。因此，这些5-HTT多态性和情感障碍之间的关联仍不清楚。目前的工作调查这些潜在的关联在荟萃分析，最大限度地提高权力，找到每种疾病和两个5-HTT多态性之间的关联。我们应用荟萃分析技术，病例对照研究的两个5-HTT多态性和两种情感障碍（BP和UP），导致四个荟萃分析。对于每个多态性，我们评估了等位基因关联的证据，研究间的异质性，个体研究的影响，以及潜在的发表偏倚。44-bp插入/缺失多态性的短等位基因显示与BP显著相关（比值比（OR）= 1.13，P = 0.001），但与UP无关。对于17 bp的VNTR，串联重复序列数量的增加与任何疾病都没有显着关联。44-bp插入/缺失多态性的小但显著的影响。因为BP是导致这些精神疾病的多因素性质的许多基因之一。(C)2005 Wiley-Liss，Inc.
Family, twin, and adoption studies show that psychiatric diseases including bipolar disorder (BP) and unipolar disorder (UP) have a substantial genetic component. For these illnesses, both positive and negative associations have been reported for two polymorphisms located in the serotonin transporter gene (5-HTT) on chromosome 17: a 17-base-pair (bp) variable-number tandem-repeat (VNTR) in intron 2 and a 44-bp insertion/deletion in the promoter region. Thus, associations between these 5-HTT polymorphisms and affective disorders remain unclear. The present work investigates these potential associations in meta-analyzes that maximize the power to find associations between each disease and the two 5-HTT polymorphisms. We applied meta-analysis techniques to case-control studies of two 5-HTT polymorphisms and two affective disorders (BP and UP), resulting in four meta-analyzes. For each polymorphism, we assessed the evidence for allelic associations, heterogeneity among studies, the influence of individual studies, and the potential for publication bias. The short allele(s) of the 44-bp insertion/deletion polymorphism showed a significant association for BP (odds ratio (OR) = 1.13, P = 0.001) but not UP. For the 17-bp VNTR, an increase in the number of tandem repeats had no significant association with any of the disorders. The small but significant effects of the 44-bp insertion/deletion polymorphism. for BP is consistent with being one of many genes that contributes to the multifactorial nature of these psychiatric disorders. (C) 2005 Wiley-Liss, Inc.