| Objective:To explore the relationship between single nucleotide polymorphism of ATP13A2 gene and Parkinson's disease(PD)in Han and Uygur in Xinjiang.Method:A case-control study was conducted using a combination of polymerase chain reaction(PCR)and gene sequencing to analyze ATP13A2 gene Thr12Met(rs151117874)locus?Arg294Gln(rs56367069)locus?C.1815C>T(rs2076603)locus polymorphism in 222Parkinson's patients(Parkinson's disease group,case group)and 230 healthy subjects with matched age and gender(normal control group).Results:no mutations in Thr12Met locus and Arg294Gln locus were detected in Parkinson's disease group and normal control group,all of them were wild GG genotypes,No heterozygous variant GA genotype and homozygous variant AA genotype were found;There was no significant difference in genotype and allele frequency of the Thr12Met locus and Arg294Gln locus between the case group and the control group(P>0.05);There was no significant difference in the distribution of Thr12Met locus and Arg294Gln locus mutation between different age(?50 years old/>50 years old)and different gender(male/female)(P>0.05).The genotype frequency of the heterozygous AG in C.1815C>T locus in Parkinson's disease group and normal control group was 43.2%and 48.7%respectively,and the mutant AA was 17.1%and 9.6%,the difference between the two groups was not statistically significant(?~2=5.705,P>0.05),the allele frequency G was 61.3%and 66.1%respectively in Parkinson's disease group and normal control group,and the mutant A was 38.7%and33.9%.There was no significant difference between the two groups(?~2=2.276,P>0.05).In the stratified analysis,there was no significant difference in the C.1815C>T locus genotype and allele frequency between the age?gender subgroups in Parkinson's disease group and normal control group(P>0.05).Conclusion:The polymorphism of ATPl3A2gene Thr12Met locus?Arg294Gln locus and C.1815C>T locus may have nothing to do with the occurrence of Parkinson's disease in Xinjiang. |
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