图雷特综合征与多巴胺D2受体基因rs1800497多态性关联分析

A family based transmission disequilibrium analysis study of dopamine D2 receptor gene with Tourette syndrome

目的 探讨图雷特综合征（Tourette syndrome,TS）与多巴胺D2受体（dopamine D2 receptor,DRD2）基因单核苷酸多态性（single nucleotide polymorphism,SNP）位点rs 1800497是否存在关联.方法 采用DSM-Ⅳ中TS诊断标准进行诊断.应用TaqMan探针SNP基因分型技术,对106例TS患者（患者组）和TS患者的212名未患病父母（父母组）的DRD2基因SNP位点rs1800497进行基因分型;采用遗传分析统计软件Plink 1.07进行传递不平衡检验,评估TS是否与该研究位点存在关联.结果 患者组与父母组DRD2基因SNP位点rs1800497存在传递不平衡现象（OR=1.556,95％ CI：1.145 ～2.036）,两组比较差异有统计学意义（Х^2=4.348,P=0.037）.结论 DRD2基因SNP位点rs1800497多态性可能与TS存在关联,需扩大样本量进一步系统研究.

Objective To explore the difference of rs1800497 of single nucleotide polymorphism （SNP） of dopamine D2 receptor（DRD2）gene genotype and allele frequency in Tourette syndrome（TS） patients and their parents in Chinese Han population.Methods In this study,the rs1800497 polymorphism of the DRD2 gene was genotyped by TaqMan SNP genotyping assay technique.Transmission disequilibrium test（TDT） was employed for statistical analysis with the genetic analysis statistic software of Plink 1.07.TS was diagnosed with the Diagnostic and Statistical Manual of Mental Disorder,the Forth Edition（DSM-Ⅳ） diagnostic criteria for TS.Results TDT analysis showed transmission disequilibrium of rs1800497 polymorphism of SNP in DRD2 gene （OR =1.556,95% CI：1.145-2.036; Х^2 =4.348,P =0.037）.Conclusion TDT study shows that TS could have relationship with rs1800497 polymorphism of SNP in DRD2 gene.It should be verified by making larger samples in future study.