中国人群pitx3基因多态性与晚发散发性帕金森病的相关研究

Genetic variants of the Pitx3 gene are not associated with late-onset sporadic Parkinson's disease in a Chinese population

目的分析pitx3基因多态性与晚发散发性帕金森病的遗传关联。方法使用连接酶检测反应(LDR)法,分析509例晚发散发性帕金森病(Parkinson's disease,PD)患者和494例正常对照者中pitx3基因单核苷酸多态性(SNPs)位点rs2281983、rs4919621和rs3758549。随机选取10%样品直接测序进行验证。结果 pitx3基因SNP位点rs2281983、rs4919621和rs3758549的基因频率在晚发散发性帕金森病患者和正常对照组间差异无统计学意义。3个SNP位点与晚发散发性PD无关联。结论中国人群中,pitx3不是晚发散发性帕金森病的易感因素。

Objective To investigate the relationship between polymorphism in the pitx3 gene and hereditary susceptibility of late-onset sporadic Parkinson＇s disease（PD）. Methods Three pitx3 single nucleotide polymorphisms（SNPs）,including rs2281983,rs4919621 and rs3758549 were examined in 509 late-onset sporadic PD patients and 494 healthy controls.Genotyping was carried out in all subjects using a ligase detection reaction（LDR）.Additionally,about 10% of the samples were randomly selected,and retested by direct DNA sequencing. Results Allele and genotype frequencies did not differ between the patients and controls for all three SNPs（rs2281983,rs4919621 and rs3758549）. Conclusion Three pitx3 SNPs do not contribute to the risk of developing PD in late-onset sporadic PD in this Chinese population.