Bondy B, Spaeth M, Offenbaecher M, Glatzeder K, Stratz T, Schwarz M, de Jonge S, Krüger M, Engel R R, Färber L, Pongratz D E, Ackenheil M
Psychiatric Hospital, University of Munich, Nussbaumstrasse 7, Munich, D-80336, Germany.
Neurobiol Dis. 1999 Oct;6(5):433-9. doi: 10.1006/nbdi.1999.0262.
Based on a possible involvement of serotonergic dysfunction in the pathophysiology of fibromyalgia (FM) and on preliminary reports of a possible genetically driven vulnerability for this disorder we investigated the silent T102C polymorphism of the 5-HT2A-receptor gene in 168 FM patients and 115 healthy controls. Our results showed a significantly different genotype distribution in FM patients with a decrease in T/T and an increase in both T/C and C/C genotypes as compared to the control population (Fisher's Exact test, two-sided, P = 0.008). However, the increase in allele-C102 frequency felt short of significance (P = 0.07). Correlation of genotypes to clinical parameters revealed no influences on age of onset, duration of disease or psychopathological symptoms, measured with the Beck Depression Inventory and the symptom checklist SCL-90-R. In contrast to that the pain score, being a self reported information on pain severity, was significantly higher in patients of the T/T genotype (Mann-Whitney U test, P = 0.028). This suggests that the T102-allele might be involved in the complex circuits of nociception. However, the T102C polymorphism is not directly involved in the aetiology of FM but might be in linkage dysequilibrium with the true functional variant, which has to be unravelled.
基于血清素功能障碍可能参与纤维肌痛（FM）的病理生理学过程，以及关于该疾病可能存在遗传驱动易感性的初步报告，我们对168例FM患者和115名健康对照者进行了5-HT2A受体基因沉默T102C多态性的研究。我们的结果显示，与对照人群相比，FM患者的基因型分布存在显著差异，T/T基因型减少，T/C和C/C基因型均增加（Fisher精确检验，双侧，P = 0.008）。然而，等位基因C102频率的增加未达到显著水平（P = 0.07）。基因型与临床参数的相关性分析显示，其对发病年龄、病程或心理病理症状均无影响，心理病理症状通过贝克抑郁量表和症状清单SCL-90-R进行测量。与此相反，作为自我报告的疼痛严重程度信息，T/T基因型患者的疼痛评分显著更高（Mann-Whitney U检验，P = 0.028）。这表明T102等位基因可能参与了伤害感受的复杂回路。然而，T102C多态性并不直接参与FM的病因学，但可能与真正的功能变异处于连锁不平衡状态，这有待进一步阐明。
