Parkinson’s disease(PD)is a complex fatal chronic neurodegenerative disease most common in elderly people.The early genome-wide association studies(GWAS)found that the minor allele variant of PARK16 rs708730 polymorp...Parkinson’s disease(PD)is a complex fatal chronic neurodegenerative disease most common in elderly people.The early genome-wide association studies(GWAS)found that the minor allele variant of PARK16 rs708730 polymorphism is a significant protective factor for PD in Caucasian populations.However,these results cannot be repeated by the following studies in Caucasian populations and other populations.We considered that the inconsistency of the findings may be caused by the small-scale samples or the heterogeneity among different populations.Therefore,in this study,we synthesized the previous related GWAS studies through three authoritative sources,and used the large-scale samples(10,645 PD cases and 30,499 controls)to reevaluate the association between rs708730 polymorphism and PD.The results showed that there is no association between them in Asian ancestry population.While,in European ancestry population,we found that the minor allele variant(G)of rs708730 polymorphism is significantly associated with a decreased risk of PD.Collectively,our findings further verified the association of rs708730 with PD and show its genetic heterogeneity among different populations,which can help to develop a better understanding of the PD’s pathogenesis.展开更多
To investigate the association of five SNPs(rs823083,rs708723,rs4951261,rs823076 and rs16856110) at the PARK16 locus with Parkinson's disease(PD),and to potentiate its forensic application.The genomic DNAs of 215 ...To investigate the association of five SNPs(rs823083,rs708723,rs4951261,rs823076 and rs16856110) at the PARK16 locus with Parkinson's disease(PD),and to potentiate its forensic application.The genomic DNAs of 215 PD patients and 212 matched controls from the northern Han Chinese population were amplified in two independent PCR systems and subsequently genotyped by digestion with the three endonucleases(Hinf Ⅰ,Nco Ⅰ and Msp Ⅰ).The genetic parameters and association studies were carried out with SPSS 13.0,Haploview version 4.2 and PLINK 1.07 softwares.We detected accurately all genotypes in the five SNPs with multiplex PCR-RFLP and mismatched multiplex PCR-RFLP techniques.The genotypes of four SNPs,except for rs823083,were in Hardy-Weinberg equilibrium.The four SNPs,rs16856110,rs4951261,rs708723 and rs823076,which were in linkage equilibrium,should not be associated with PD(P-values ranging from 0.077 to 0.544).The SNPs investigated at the PARK16 locus were not found to be involved in PD-associated blocks in the northern Han Chinese population.The allele distributions of rs708723,rs4951261,rs823076 and rs16856110 in the northern Han Chinese population can be highly polymorphic,which can be applied to genetic analysis and forensic practices.展开更多
基金Lanzhou Science and Technology Bureau Program Funds(2017-RC-16,2018-1-110)Gansu Science and Technology Fund Grant(ID:17ZD2FA009)National Science and Technology Ministry(ID:2017ZX09101001).
文摘Parkinson’s disease(PD)is a complex fatal chronic neurodegenerative disease most common in elderly people.The early genome-wide association studies(GWAS)found that the minor allele variant of PARK16 rs708730 polymorphism is a significant protective factor for PD in Caucasian populations.However,these results cannot be repeated by the following studies in Caucasian populations and other populations.We considered that the inconsistency of the findings may be caused by the small-scale samples or the heterogeneity among different populations.Therefore,in this study,we synthesized the previous related GWAS studies through three authoritative sources,and used the large-scale samples(10,645 PD cases and 30,499 controls)to reevaluate the association between rs708730 polymorphism and PD.The results showed that there is no association between them in Asian ancestry population.While,in European ancestry population,we found that the minor allele variant(G)of rs708730 polymorphism is significantly associated with a decreased risk of PD.Collectively,our findings further verified the association of rs708730 with PD and show its genetic heterogeneity among different populations,which can help to develop a better understanding of the PD’s pathogenesis.
基金funded by National Natural Science Foundation of China(No.81172713)
文摘To investigate the association of five SNPs(rs823083,rs708723,rs4951261,rs823076 and rs16856110) at the PARK16 locus with Parkinson's disease(PD),and to potentiate its forensic application.The genomic DNAs of 215 PD patients and 212 matched controls from the northern Han Chinese population were amplified in two independent PCR systems and subsequently genotyped by digestion with the three endonucleases(Hinf Ⅰ,Nco Ⅰ and Msp Ⅰ).The genetic parameters and association studies were carried out with SPSS 13.0,Haploview version 4.2 and PLINK 1.07 softwares.We detected accurately all genotypes in the five SNPs with multiplex PCR-RFLP and mismatched multiplex PCR-RFLP techniques.The genotypes of four SNPs,except for rs823083,were in Hardy-Weinberg equilibrium.The four SNPs,rs16856110,rs4951261,rs708723 and rs823076,which were in linkage equilibrium,should not be associated with PD(P-values ranging from 0.077 to 0.544).The SNPs investigated at the PARK16 locus were not found to be involved in PD-associated blocks in the northern Han Chinese population.The allele distributions of rs708723,rs4951261,rs823076 and rs16856110 in the northern Han Chinese population can be highly polymorphic,which can be applied to genetic analysis and forensic practices.
