Rosenthal N E, Mazzanti C M, Barnett R L, Hardin T A, Turner E H, Lam G K, Ozaki N, Goldman D
National Institute of Mental Health, Clinical Psychobiology Branch, Bethesda, MD 20892-1390, USA.
Mol Psychiatry. 1998 Mar;3(2):175-7. doi: 10.1038/sj.mp.4000360.
Seasonal variations in mood and behavior (seasonality) and seasonal affective disorder (SAD) have been attributed to seasonal fluctuations in brain serotonin (5-HT). the short (s), as opposed to the long (l), allele of the 5-HT transporter linked polymorphism (5-HTTLPR) has been associated with neuroticism and depression. We hypothesized that this short allele would also be associated with SAD and with higher levels of seasonality. Ninety-seven SAD patients and 71 non-seasonal healthy controls with low seasonality levels were genotyped for 5-HTTLPR and compared statistically. Patients with SAD were less likely to have the l/l genotype (27.8% vs 47.9%; P < 0.01) and more likely to have the s allele (44.8% vs 32.4%; P < 0.02) as compared to controls. The three 5-HTTLPR genotypes were also differentially distributed in patients and controls (P < 0.03). The SAD patients with the l/l genotype had a lower mean seasonality score than did patients with the other two genotypes (mean +/- s.d. = 15.3 +/- 2.8 vs 17.1 +/- 3.4 respectively; P < 0.02). The 5-HTTLPR short allele contributes to the trait of seasonality and is a risk factor for SAD, providing further evidence for a relationship between genetic variation in the 5-HT transporter (5-HTT) and behavior.
情绪和行为的季节性变化（季节性）以及季节性情感障碍（SAD）被认为与大脑血清素（5-HT）的季节性波动有关。5-羟色胺转运体连锁多态性（5-HTTLPR）的短（s）等位基因与长（l）等位基因相比，与神经质和抑郁症有关。我们假设这个短等位基因也与SAD以及更高水平的季节性有关。对97名SAD患者和71名季节性水平较低的非季节性健康对照进行5-HTTLPR基因分型并进行统计学比较。与对照组相比，SAD患者具有l/l基因型的可能性较小（27.8%对47.9%；P<0.01），而具有s等位基因的可能性较大（44.8%对32.4%；P<0.02）。三种5-HTTLPR基因型在患者和对照组中的分布也存在差异（P<0.03）。具有l/l基因型的SAD患者的平均季节性得分低于其他两种基因型的患者（分别为平均±标准差=15.3±2.8对17.1±3.4；P<0.02）。5-HTTLPR短等位基因促成了季节性特征，并且是SAD的一个风险因素，为5-羟色胺转运体（5-HTT）的基因变异与行为之间的关系提供了进一步的证据。
