Relationship Between Ala746Thr Site And Gly49Ser Site Mutation Of ATP13A2 Gene And Parkinson's Disease

Objective: To investigate the relationship between Ala746 Thr and Gly49 Ser mutation of ATP13A2 gene and the risk of Parkinson's disease(PD)in Xinjiang.Method: It was a case-control study.We collected the venous blood from 224 cases and 220 healthy controls.The presence of the Ala746 Thr and Gly49 Ser variant in the ATP13A2 gene were examined by Polymerase chain reaction(PCR)and DNA sequencing.Result: Among 224 cases and 220 healthy controls,the GA genotype at Ala746 Thr was found in 1 han patient with early onset Parkinson's disease(EOPD).No AA genotype was found in all cases.The rest 223 cases carry the GG genotype.The mutation frequency in cases was 1/224(0.4%).All 220 controls carry the GG genotype and the mutation frequency was 0/220(0%)at Ala746 Thr.There were no significant differences of distribution of genotypes and gene frequencies between the case group and the control group(P>0.05)at Ala746 Thr of ATP13A2 gene.We also compared distribution of genotypes and gene frequencies between cases and controls with different sex(male/female)and age(?50/>50years old).No significant differences were observed(P>0.05)at Ala746 Thr of ATP13A2 gene.After Gly49 Ser site type,both the case group and the control group were CC genetype(wild type).CT genetype and TT genetype mutations were not found,and the mutation frequency was 0.0%(case group: 0/224,control group: 0/220).There were no significant differences of distribution of genotypes and gene frequencies between the case group and the control group(P>0.05)at Gly49 Ser site.There was no significant difference between the case group and the control group with different sex(male/female)and age(?50 years old and 50 years old)subgroup(P>0.05).Conclusion: The Ala746 Thr and Gly49 Ser variants in ATP13A2 gene may not significantly different between PD group and healthy control group,different genders and EOPD and LOPD.in Xinjiang.There may be no correlation between Ala746 Thr and Gly49 Ser variants and risk of PD.