Pitx3基因多态性与帕金森病易感性的相关性研究

Association between Pitx3 gene polymorphism and susceptibility to Parkinson's disease

目的探讨Pitx3基因多态性与帕金森病（PD）易感性的关系。方法选择江苏地区汉族的215例PD患者作为PD组，同期选择健康体检者250例作为对照组，利用多重连接酶链反应方法，检测2组Pitx32个单核苷酸多态性（SNP）位点rs2281983和rs3758549基因分布，分析各基因型、等位基因频率、单倍型与PD易感性的关系。结果PD组与对照组Pitx3基因SNP位点rs2281983的CC、CT和TT基因型（6．5％VS7．2％，42．3％vs41．2％，51．2％vs 51．6％，χ2=0．274，P=0．717）和等位基因频率（χ2=0．159，P=0．423）分布比较，差异无统计学意义。PD组与对照组rs3758549的CC、CT和TT基因型（57．8％us66．4％，34．4％vs29．2％，7．9％vs54．4％，χ2=9．144，P=0．023）和等位基因频率（χ2=10．138，P=0．011）分布比较，差异有统计学意义。2组Pitx3基因C-C、C-T单倍型分布比较，差异无统计学意义（P〉0．05）；与对照组比较，PD组T-T单倍型增加PD易感性（OR=1．299，95％CI：1．003-1．863，P=0．048）。结论江苏地区汉族人群中，Pitx3基因的rs3758549位点基因型分布和等位基因频率与PD易感性之间有显著关联性，Pitx3基因的单倍型TT可能与PD易感性相关。

Objective To study the association between Pitx3 gene polymorphism and susceptibility to Parkinson＇s disease （PD）. Methods Two hundred and fifteen PD patients served as a PD group and 250 subjects undergoing physical examination served as a control group in this study. Single nucleotide polymorphism of Pitx3 gene at rs2281983 and rs3758549 was detected by ligase detec- tion reaction （LDR）. Association of genotype, alle frequency and haplotype of Pitx3 gene with susceptibility to PD was analyzed. Results No significant difference was found in distribution of rs3758549 C〉T genotype and alle frequency in Pitx3 gene single nucleotide polymorphism be- tween the two groups （χ2= 15. 138, P=0. 001;χ2= 10. 138, P = 0. 011）. The distribution of rs3758549 C〉T genotype and alle frequency in Pitx3 gene was significantly different between the two groups （χ2 =0. 274,P=0. 717; χ2=0. 159,P=0. 423） and in the distribution of C-C and C-T haplotypes between the two group （P〈0.05）. The susceptibility to PD due to T-T haplotype was significantly higher in PD group than in control group （OR = 1. 299,95 % CI：1. 003-1. 863, P = 0. 048）. Conclusion The distribution of rs3758549 genotype and TT haplotype of Pitx3 gene and allele frequency are associated with the susceotibily to PD in Han population of Jiangsu Province, China.