Department of Psychiatry, Yonsei University College of Medicine, Seoul, Korea.
Psychiatry Res. 2011 Sep 30;189(2):246-50. doi: 10.1016/j.psychres.2011.04.002. Epub 2011 May 4.
It has been suggested that serotonergic hypofunction and serotonergic pathway genes underlie the somatic symptoms of somatoform disorders. We examined a variety of serotonin-related gene polymorphisms to determine whether undifferentiated somatoform disorder is associated with specific serotonin-related gene pathways. Serotonin-related polymorphic markers were assessed using single nucleotide polymorphism (SNP) genotyping. One hundred and two patients with undifferentiated somatoform disorder and 133 healthy subjects were enrolled. The genotype and allele frequencies of tryptophan hydroxylase (TPH)1 A218C, TPH2 rs1386494, serotonin receptor 2A-T102C (5-HTR 2A-T102C), 5-HTR 2A-G1438A and serotonin transporter (5HTTLPR) gene were compared between the groups. The Hamilton Rating Scale for Depression and the somatization subscale of the Symptom Checklist-90-Revised (SCL-90-R) were used for psychological assessment. Patients with undifferentiated somatoform disorder had higher frequencies of the TPH1 C allele than healthy controls (p=0.02) but the difference was not significant after Bonferroni correction. The frequency of TPH1 genotype also did not differ significantly between the patients and the healthy controls, nor did TPH2 rs1386494, 5-HTR 2A-T102C, 5-HTR 2A-G1438A or 5HTTLPR allele and genotype frequencies differ significantly between the two groups. These findings suggest that a variety of serotonin-related gene pathways are unlikely to be definite genetic risk factors for undifferentiated somatoform disorder. Therefore, the pathogenesis of the disorder may be related to epigenetic factors, including psychosocial and cultural factors. Nonetheless, future studies need to include a larger sample of subjects and polymorphisms of more serotonin-related gene variants.
有人提出，5-羟色胺能功能低下和 5-羟色胺能途径基因是躯体形式障碍躯体症状的基础。我们研究了多种与 5-羟色胺相关的基因多态性，以确定未分化的躯体形式障碍是否与特定的 5-羟色胺相关基因途径有关。使用单核苷酸多态性（SNP）基因分型来评估与 5-羟色胺相关的多态性标记物。共纳入 102 例未分化躯体形式障碍患者和 133 例健康对照者。比较两组间色氨酸羟化酶（TPH）1A218C、TPH2rs1386494、5-羟色胺受体 2A-T102C（5-HTR2A-T102C）、5-HTR2A-G1438A 和 5-羟色胺转运体（5HTTLPR）基因的基因型和等位基因频率。采用汉密尔顿抑郁评定量表和症状清单 90 修订版（SCL-90-R）的躯体化分量表进行心理评估。与健康对照组相比，未分化躯体形式障碍患者 TPH1C 等位基因频率较高（p=0.02），但经 Bonferroni 校正后差异无统计学意义。TPH1 基因型在患者与健康对照组之间也无显著差异，TPH2rs1386494、5-HTR2A-T102C、5-HTR2A-G1438A 或 5HTTLPR 等位基因和基因型频率在两组间也无显著差异。这些发现表明，多种与 5-羟色胺相关的基因途径不太可能是未分化躯体形式障碍的明确遗传危险因素。因此，该疾病的发病机制可能与表观遗传因素有关，包括心理社会和文化因素。尽管如此，未来的研究仍需要包括更大的样本量和更多与 5-羟色胺相关的基因变异。
