Background Parkinson＇s disease （PD） is an autosomally inherited neurodegenerative disease in elderly people.The etiology of PD has long been thought to be associated with both genetic and environmental factors.To e...Background Parkinson＇s disease （PD） is an autosomally inherited neurodegenerative disease in elderly people.The etiology of PD has long been thought to be associated with both genetic and environmental factors.To explore potential genetic risk factors for PD in the northern Han Chinese population,we investigated three single nucleotide polymorphisms （SNPs） （rs4538475,rs11107 and rs12564040） in the BST1,PARK15 and PARK9 genes.Methods Genomic DNA from 215 PD patients and 212 matched controls was amplified in two independent PCR systems and subsequently genotyped by digestion with the endonuclease Pstl.Genetic parameter and association studies were carried out with SPSS 13.0 and PLINK 1.07 software.Results We could accurately detect all genotypes in the three loci with the PCR-RFLP or mismatched PCR-RFLP techniques.The observed heterozygosities of the rs4538475 and rs11107 loci in PD and control groups ranged from 0.460-0.481 and 0.410-0.441,in BST1,PARK15 respectively,while we detected no heterozygosity at the rs12564040 locus in PARK9.The similar distributions of genotypic frequency between both groups suggest that the three SNPs investigated in this study are unlikely to play roles as common risk factors or pathogenic mutations for PD in northern Han Chinese.Conclusion The SNPs investigated in the BST1,PARK15 and PARK9 genes associated with PD susceptibility are not associated with PD in the northern Han Chinese population.展开更多
基金This work was supported by a grant from the National Natural Science Foundation of China （No.30771833）.
文摘Background Parkinson＇s disease （PD） is an autosomally inherited neurodegenerative disease in elderly people.The etiology of PD has long been thought to be associated with both genetic and environmental factors.To explore potential genetic risk factors for PD in the northern Han Chinese population,we investigated three single nucleotide polymorphisms （SNPs） （rs4538475,rs11107 and rs12564040） in the BST1,PARK15 and PARK9 genes.Methods Genomic DNA from 215 PD patients and 212 matched controls was amplified in two independent PCR systems and subsequently genotyped by digestion with the endonuclease Pstl.Genetic parameter and association studies were carried out with SPSS 13.0 and PLINK 1.07 software.Results We could accurately detect all genotypes in the three loci with the PCR-RFLP or mismatched PCR-RFLP techniques.The observed heterozygosities of the rs4538475 and rs11107 loci in PD and control groups ranged from 0.460-0.481 and 0.410-0.441,in BST1,PARK15 respectively,while we detected no heterozygosity at the rs12564040 locus in PARK9.The similar distributions of genotypic frequency between both groups suggest that the three SNPs investigated in this study are unlikely to play roles as common risk factors or pathogenic mutations for PD in northern Han Chinese.Conclusion The SNPs investigated in the BST1,PARK15 and PARK9 genes associated with PD susceptibility are not associated with PD in the northern Han Chinese population.
