Rybakowski Filip, Slopien Agnieszka, Dmitrzak-Weglarz Monika, Czerski Piotr, Rajewski Andrzej, Hauser Joanna
Department of Child and Adolescent Psychiatry, Poznan University of Medical Sciences, Poznan, Poland.
Neuropsychobiology. 2006;53(1):33-9. doi: 10.1159/000090701. Epub 2006 Jan 4.
Disturbances of serotonergic neurotransmission and temperamental vulnerability have both been implicated in the pathogenesis of anorexia nervosa (AN). We genotyped the -1438 A/G polymorphism in the 5-HT2A receptor gene and serotonin transporter linked-polymorphic region (5-HTTLPR) in 132 adolescent subjects with AN and in 93 healthy controls. Personality dimensions in AN patients were assessed with the Temperament and Character Inventory. In a case-control model, we tested the hypothesis that these genetic variants confer susceptibility to AN. We also analyzed whether two polymorphisms show association with temperamental and character traits. No significant difference was found in the 5-HTTLPR frequency between AN patients and controls; however, there was a statistical trend towards a higher frequency of the A allele of the -1438 A/G polymorphism in patients than in controls (64.9 vs. 56.7%, chi2 test, p=0.08). We also found a significant association between the A allele of this polymorphism and two temperamental traits. Patients homozygous for the A allele showed lower reward dependence than G/G homozygotes, and A/A homozygotes showed lower harm avoidance than heterozygotes. Low reward dependence and harm avoidance were more characteristic of the restrictive-type AN than of other subtypes of the disorder. No association of 5-HTTLPR with personality dimensions in AN patients was observed. Our results may suggest that the A allele of the -1438 A/G polymorphism confers some genetic risk for adolescent AN patients, especially in those with personality traits, which are typical of the restrictive-type AN.
血清素能神经传递障碍和气质易感性均与神经性厌食症（AN）的发病机制有关。我们对132名患有AN的青少年受试者和93名健康对照者的5-HT2A受体基因中的-1438 A/G多态性以及血清素转运体连锁多态性区域（5-HTTLPR）进行了基因分型。使用气质和性格量表评估AN患者的人格维度。在病例对照模型中，我们检验了这些基因变异赋予AN易感性的假设。我们还分析了这两种多态性是否与气质和性格特征相关。在AN患者和对照者之间，5-HTTLPR频率未发现显著差异；然而，患者中-1438 A/G多态性的A等位基因频率有高于对照者的统计学趋势（64.9%对56.7%，卡方检验，p=0.08）。我们还发现该多态性的A等位基因与两种气质特征之间存在显著关联。A等位基因纯合子患者的奖赏依赖低于G/G纯合子，A/A纯合子的回避伤害低于杂合子。低奖赏依赖和回避伤害在限制型AN中比在该疾病的其他亚型中更具特征性。未观察到5-HTTLPR与AN患者人格维度之间的关联。我们的结果可能表明，-1438 A/G多态性的A等位基因赋予青少年AN患者一些遗传风险，尤其是那些具有限制型AN典型人格特征的患者。
