Ji Weidong, Li Ning, Ju Kang, Zheng Hong, Yang Chuang, Xu Ping, Chen Silu, Cao Aiai, Chen Xue, Guo Lanting
Department of Psychiatry, Shanghai Changning Mental Health Center, No 299 Xiehe Road, Shanghai, 200335, China,
Neurol Sci. 2015 Apr;36(4):561-70. doi: 10.1007/s10072-014-1992-1. Epub 2014 Nov 4.
Gilles de la Tourette syndrome (GTS) is a kind of neuropsychiatric disorder with childhood onset. The cognitive dysfunction caused by GTS could affect the growth and learning of children and adolescents. The mechanism of cognitive functions was associated with dopaminergic system, thus we access the associations between polymorphism of some dopaminergic system-related genes including Catechol-O-methyltransferase (COMT) met/val, Dopamine receptor D4 (DRD4) exon III 48 bp VNTR (variable number of tandem repeats), Interleukin 1 (IL-1) Ra 86 bp and IL-1β exon 5, and cognitive functions in GTS patients. Genotyping analysis was performed through polymerase chain reaction (PCR). Test for cognitive functions of GTS patients included modified wisconsin card sorting test (WCST), trail making test, visual reproduction test, stroop test and verbal fluency test. The patients with COMT met/met genotype showed less perseverative errors in modified WCST test compared with patients with COMT val/val genotype (P < 0.05). Meanwhile, patients without allele val had better delayed memory in visual reproduction test, less errors in the stroop test and less perseverative errors in modified WCST test compared with patients with allele val (P < 0.05). However, no significant difference was found in cognitive functions among patients with different genotypes or alleles of polymorphisms of DRD4 exon III 48 bp VNTR, IL-1 Ra 86 bp and IL-1β exon 5 (P > 0.05). Polymorphism of COMT met/val was correlated with cognitive functions in GTS patients. This study provided basis for the analysis of molecular genetic pathology of cognitive dysfunctions in GTS.
Gilles de la Tourette综合征（GTS）是一种起病于儿童期的神经精神障碍。GTS所致的认知功能障碍会影响儿童和青少年的生长及学习。认知功能机制与多巴胺能系统相关，因此我们研究了儿茶酚-O-甲基转移酶（COMT）met/val、多巴胺受体D4（DRD4）外显子III 48 bp可变串联重复序列（VNTR）、白细胞介素1（IL-1）Ra 86 bp和IL-1β外显子5等一些多巴胺能系统相关基因的多态性与GTS患者认知功能之间的关联。通过聚合酶链反应（PCR）进行基因分型分析。GTS患者的认知功能测试包括改良威斯康星卡片分类测试（WCST）、连线测验、视觉再现测试、Stroop测试和言语流畅性测试。与COMT val/val基因型患者相比，COMT met/met基因型患者在改良WCST测试中的持续性错误更少（P<0.05）。同时，与携带等位基因val的患者相比，不携带等位基因val的患者在视觉再现测试中的延迟记忆更好、在Stroop测试中的错误更少、在改良WCST测试中的持续性错误更少（P<0.05）。然而，DRD4外显子III 48 bp VNTR、IL-1 Ra 86 bp和IL-1β外显子5多态性的不同基因型或等位基因患者之间的认知功能未发现显著差异（P>0.05）。COMT met/val多态性与GTS患者的认知功能相关。本研究为分析GTS认知功能障碍的分子遗传病理学提供了依据。
