A genetic variant of HTR2C may play a role in the manifestation of Tourette syndrome
A genetic variant of HTR2C may play a role in the manifestation of Tourette syndrome
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DOI：
10.1097/ypg.0b013e32833511ce
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发表时间：
2010-02-01
影响因子：
0.9
通讯作者：
Zill, Peter
中科院分区：
文献类型：
--
作者：
Dehning, Sandra;Mueller, Norbert;Zill, Peter
妥瑞氏综合征（Gilles de la Tourette syndrome，简称GTS）是一种复杂的神经精神疾病，可能源于前额叶-边缘-基底神经节回路中几种神经递质系统的相互作用紊乱。多基因多因子遗传已被假定；然而，目前还没有确定的易感基因。由于神经影像学研究提示GTS中多巴胺能和血清素能功能障碍，血清素是多巴胺释放的重要因素，因此我们对87例GTS患者血清素能受体（HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C）和转运体基因（SLC6A4）的常见多态性进行了基因分型，并与311例匹配对照进行了比较。我们发现在HTR2C和GTS两种多态性之间存在名义上显著的关联，这在男性患者中更为明显。进一步的血清素能多态性分析没有显示任何显著的结果。这些启动子多态性的修饰功能可能有助于血清素和多巴胺的复杂相互作用，从而导致GTS的表现。精神病学杂志20:35-38 (C) 2010 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins。
Gilles de la Tourette syndrome (GTS) (MIM 137580) is a complex neuropsychiatric disorder probably originating from a disturbed interplay of several neurotransmitter systems in the prefrontal-limbic-basal ganglia loop. Polygenetic multifactorial inheritance has been postulated; nevertheless, no confirmed susceptible genes have been identified yet. As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. We found a nominally significant association between both polymorphisms in the HTR2C and the GTS, which was more pronounced in male patients. Analysis of the further serotonergic polymorphisms did not reveal any significant result. A modified function of these promoter polymorphisms may contribute to the complex interplay of serotonin and dopamine and then to the manifestation of GTS. Psychiatr Genet 20:35-38 (C) 2010 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.