Abstract

Objective To investigate the relationship between polymorphism in the PITX3 gene and hereditary susceptibility of Parkinson's disease(PD). Methods Three PITX3 single nucleotide polymorphisms (SNPs), including rs2281983, rs4919621 and rs3758549 were examined in 509 late-onset PD patients(LOPD), 290 early-onset PD(EOPD) and 494 healthy controls. Genotyping was carried out in all subjects using a ligase detection reaction(LDR). Results Allele and genotype frequencies did not differ between the 799 PD patients and 494 controls(P values of genotype were 0.494, 0.343, 0.951; P values of allele were 0.369, 0.297, 0.823), between 509 LOPD patients and 494 controls(P values of genotype were 0.522, 0.350, 0.630; P values of allele were 0.413, 0.328, 0.571), between 290 EOPD patients and 494 controls(P values of genotype were 0.499, 0.492, 0.552; P values of allele were 0.321, 0.301, 0.931), and between 509 LOPD and 290 EOPD patients(P values of genotype were 0.577, 0.710, 0.127; P values of allele were 0.346, 0.472, 0.077) for all three SNPs (rs2281983, rs4919621 and rs3758549). There were no association petween the three PITX3 SNPs and PD. Conclusion Three PITX3 SNPs do not contribute to the risk of developing PD in Chinese population. Key words: PITX3 gene; Late-onset Parkinson's disease; Early-onset Parkinson's disease; Single nucleotide polymorphisms

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