关键词: 帕金森病, 启动子区甲基化, 时钟基因

Abstract: 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.

Key words: Parkinson's disease, promoter methylation, clock genes