Lee Cheng-Chun, Chou I-Ching, Tsai Chang-Hai, Wang Tso-Ren, Li Tsai-Chung, Tsai Fuu-Jen
Department of Neurology, China Medical University Hospital, Taichung, Taiwan.
Pediatr Neurol. 2005 Oct;33(4):272-6. doi: 10.1016/j.pediatrneurol.2005.05.005.
The pathophysiology of Tourette syndrome may involve the dopamine system. Dysfunction of the dopamine receptor D2 gene leads to many neuropsychiatric disorders. The objective of this study is to test the hypothesis that the dopamine receptor D2 gene may play a role in Tourette syndrome. A total of 151 children with Tourette syndrome and 183 normal control subjects were included in the study. Polymerase chain reaction was used to identify the Taq I DRD2 and DRD2 (H313H) polymorphisms of the dopamine receptor D2 gene. The genotype proportions of Taq I DRD2 and DRD2 (H313H) polymorphisms in the two groups were significantly different (P < 0.01 for both). The odds ratio for developing Tourette syndrome in individuals with the Taq I DRD2 A1 homozygote was 2.253 (95% confidence interval, 1.124-4.517) compared with individuals with the Taq I DRD2 A2 homozygote. The odds ratio for developing Tourette syndrome in individuals with the DRD2 (H313H) C homozygote was 2.96 (95% confidence interval, 1.398-6.269) compared with individuals with DRD2 (H313H) T homozygote. This study has demonstrated an association between the dopamine receptor D2 gene and Tourette syndrome. These data suggest that the dopamine receptor D2 gene or a closely linked gene might be one of the susceptibility factors for Tourette syndrome.
抽动秽语综合征的病理生理学可能涉及多巴胺系统。多巴胺受体D2基因功能障碍会导致许多神经精神疾病。本研究的目的是检验多巴胺受体D2基因可能在抽动秽语综合征中起作用这一假设。该研究共纳入了151名抽动秽语综合征患儿和183名正常对照受试者。采用聚合酶链反应来鉴定多巴胺受体D2基因的Taq I DRD2和DRD2(H313H)多态性。两组中Taq I DRD2和DRD2(H313H)多态性的基因型比例存在显著差异(两者P均<0.01)。与Taq I DRD2 A2纯合子个体相比,Taq I DRD2 A1纯合子个体患抽动秽语综合征的优势比为2.253(95%置信区间为1.124 - 4.517)。与DRD2(H313H)T纯合子个体相比,DRD2(H313H)C纯合子个体患抽动秽语综合征的优势比为2.96(95%置信区间为1.398 - 6.269)。本研究证明了多巴胺受体D2基因与抽动秽语综合征之间存在关联。这些数据表明,多巴胺受体D2基因或与之紧密连锁的基因可能是抽动秽语综合征的易感因素之一。