Association between seasonal affective disorder and the 5-HT2A promoter polymorphism, -1438G/A
Association between seasonal affective disorder and the 5-HT2A promoter polymorphism, -1438G/A
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DOI：
10.1038/sj.mp.4000439
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发表时间：
1999-01-01
影响因子：
11
通讯作者：
Rosenthal, NE
中科院分区：
文献类型：
--
作者：
Enoch, MA;Goldman, D;Rosenthal, NE
参与5-羟色胺代谢的基因是季节性情感障碍（SAD）发病机制的良好候选者。5-羟色胺转运蛋白启动子中的功能变体5-HTTLPR最近被证明与SAD和季节性相关。本研究的目的是确定5-HT 2A启动子-1438G/A多态性是否与SAD和季节性相关，以及它是否与5-HTTLPR对季节性具有累加效应。67名SAD患者和69名正常志愿者，均用SCID筛查，并根据DSM-III-R标准诊断，基因型为-1438G/A 5-HT 2A启动子多态性。所有患者之前都进行了5-HTTLPR基因分型，并通过全球季节性量表进行了季节性评估。SAD组5-HT 2A基因启动子-1438A变异等位基因频率（0.47）显著高于对照组（0.36）（P < 0.01），基因型分布差异也有显著性（P < 0.05）。我们发现-1438G/A多态性与季节性评分之间没有关联，并且5-HTTLPR对季节性没有加性效应。总之，我们已经表明-1438G/A 5-HT 2A启动子变体与SAD相关，但与季节性无关。我们认为，该协会可能与SAD的抑郁症状，但是，这些结果应谨慎对待，直到复制，因为假阳性结果的可能性，在病例对照关联研究。
Genes involved in serotonin metabolism are good candidates for the pathogenesis of seasonal affective disorder (SAD). A functional variant in the serotonin transporter promoter, 5-HTTLPR, has recently been shown to be associated with SAD and seasonality. The purpose of this study was to determine whether -1438G/A, a polymorphism in the 5-HT2A promoter, is associated with SAD and seasonality, and whether it has additive effects with 5-HTTLPR on seasonality, Sixty-seven individuals with SAD and 69 normal volunteers, all screened with the SCID and diagnosed according to DSM-III-R criteria, were genotyped for the -1438G/A 5-HT2A promoter polymorphism. All had been previously genotyped for 5-HTTLPR and had been assessed for seasonality by the Global Seasonality Scale. There was a significant increase in the frequency of the -1438A variant allele of the 5-HT2A promoter polymorphism in SAD patients (0.47) compared to matched controls (0.36) (P < 0.01), The difference in genotype distribution was also significant (P < 0.05). We found no association between the -1438G/A polymorphism and seasonality scores, and there was no additive effect with 5-HTTLPR on seasonality, In conclusion, we have shown that the -1438G/A 5-HT2A promoter variant is associated with SAD but not with seasonality. We suggest that the association may instead be with the depressive symptoms of SAD, However, these results should be treated with caution until replicated because of the possibility of false-positive findings in case-control association studies.