抽动秽语综合征中多巴胺受体D4的可变数目串联重复序列
Variable number tandem repeats in dopamine receptor D4 in Tourette's syndrome.
作者信息
Liu Shiguo, Cui Jiajia, Zhang Xinhua, Wu Weifeng, Niu Haitao, Ma Xu, Xu Hongmei, Yi Mingji
机构信息
Genetic Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, 266003, China; Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, 266003, China.
出版信息
Mov Disord. 2014 Nov;29(13):1687-91. doi: 10.1002/mds.26027. Epub 2014 Sep 25.
BACKGROUND
We attempted to clarify the association between dopamine receptor D4 (DRD4) 48-bp variable number of tandem repeats (VNTR) polymorphism and Tourette's syndrome.
METHODS
The DRD4 48-bp VNTR polymorphism was genotyped in 291 Tourette's syndrome patients (including 218 trios) and 405 controls. Chi-square and transmission disequilibrium test analysis were used to compare genetic distributions. We retrieved related studies in a meta-analysis to clarify the role of 2-repeat and 4-repeat alleles in the pathogenesis.
RESULTS
Obvious genotype and allele distribution differences were observed between patients and healthy controls for both 2-repeat and 4-repeat alleles. This was verified using transmission disequilibrium test analysis. Meta-analysis showed strong associations in both the total population and the Asian population.
CONCLUSIONS
The DRD4 48-bp VNTR polymorphism appears to be associated with Tourette's syndrome, with the 2-repeat allele performing a protective role and the 4-repeat allele a nonprotective role in the genesis of the disease.
背景
我们试图阐明多巴胺受体D4（DRD4）基因48碱基对可变串联重复序列（VNTR）多态性与图雷特综合征之间的关联。
方法
对291名图雷特综合征患者（包括218个三联体）和405名对照进行DRD4基因48碱基对VNTR多态性基因分型。采用卡方检验和传递不平衡检验分析来比较基因分布。我们在一项荟萃分析中检索相关研究，以阐明2重复和4重复等位基因在发病机制中的作用。
结果
在2重复和4重复等位基因方面，患者与健康对照之间均观察到明显的基因型和等位基因分布差异。这通过传递不平衡检验分析得到了验证。荟萃分析表明在总人群和亚洲人群中均存在强关联。
结论
DRD基因48碱基对VNTR多态性似乎与图雷特综合征相关，2重复等位基因在疾病发生中起保护作用，而4重复等位基因起非保护作用。
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