The serotonin transporter promoter repeat length polymorphism, seasonal affective disorder and seasonality
The serotonin transporter promoter repeat length polymorphism, seasonal affective disorder and seasonality
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DOI：
10.1017/s0033291703007372
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发表时间：
2003-07-01
影响因子：
6.9
通讯作者：
Adolfsson, R
中科院分区：
文献类型：
--
作者：
Johansson, C;Willeit, M;Adolfsson, R
背景。之前关于血清素转运子启动子重复长度多态性（5-HTTLPR）、季节性情感障碍（SAD）和季节性（情绪和行为的季节性变化）的关联研究报道了相互矛盾的结果。本研究的目的是在新的病例对照和基于人群的材料中检验相关性，并对所有已发表的5-HTTLPR和sad研究进行综合分析。147例SAD新发病例和115例对照进行了5-HTTLPR基因分型，共纳入464例患者和414例对照。此外，从基于人群的材料中选择了226名季节性得分异常高或低的个体和46名非季节性抑郁症患者进行了分析。测试了不同的遗传模型，并分析了季节性在不同样本集中的定性（高或低）和定量性状。在新的病例对照材料中，在所有样本的综合分析中，或仅包括316例低季节性选择的对照组（N=298）时，均未发现5-HTTLPR与SAD之间的关联。假设短等位基因的隐性效应（分别为20%和10%的短等位基因纯合子），在高季节性群体和低季节性群体之间检测到差异，OR (95% CI): 2.24（1.03-4.91）。季节性定量分析显示，在任何样本集中，5-HTTLPR均无相关性。这些结果并不表明5-HTTLPR短变异体在SAD易感性中起主要作用，但为季节性影响提供了适度的证据。
Background. Conflicting results have been reported in previous association studies of the serotonin transporter promoter repeat length polymorphism (5-HTTLPR), seasonal affective disorder (SAD) and seasonality (seasonal variations in mood and behaviour). The aim of this study was to test for association in new case-control and population-based materials, and to perform a combined analysis of all published studies of 5-HTTLPR and SAD.Method. One hundred and forty-seven new SAD cases and 115 controls were genotyped for 5-HTTLPR and in total 464 patients and 414 controls were included in the pooled analysis. In addition, 226 individuals selected for unusually high or low seasonality scores from a population based material and 46 patients with non-seasonal depression were analysed. Different genetic models were tested and seasonality was analysed both as a qualitative (high v. low) and as a quantitative trait in the different sample sets.Results. No association between 5-HTTLPR and SAD was found in the new case-control material, in the combined analysis of all samples, or when only including 316 patients with controls (N=298) selected for low seasonality. A difference was detected between the population based high and low seasonality groups, when assuming a recessive effect of the short allele (20% and 10% short allele homozygotes, respectively, OR (95% CI): 2.24 (1.03-4.91)). Quantitative analysis of seasonality revealed no association with 5-HTTLPR in any sample set.Conclusions. These results do not suggest a major role of the short variant of 5-HTTLPR in susceptibility to SAD, but provide modest evidence for an effect on seasonality.