The Polymorphism Of ATP13A2Gene In Uygur And Han Patients With Parkinson Disease In Xinjiang

Objective:To investigate polymorphism of ATP13A2gene Ala746Thr、IVS27-3C>T in Uygur and Han population with Parkinson disease （PD） inXinjiang,and observe whether there are difference between Uygurs and Hans.Methods:There were429Uygur and Han PD patients and390normal controls for thestudy, by the age of50years as the sector was divided into early-onset PD group andlate-onset PD group. The genome DNA was extracted. The ATP13A2gene wereamplified by polymerase chain reaction a restriction fragment length polymorphism(PCR-RFLP) and Polymerase chain reaetion(PCR) Combined with DNA directsequeneing method. Results:(1)The frequencies of Ala746Thr genotype and allelebetween the PD group and the control group of Uygur and Han were no significantdifference(P>0.05).The frequencies of Ala746Thr genotype and allele between Uygurand Han PD were no significant difference(P>0.05).The frequencies of Ala746Thrgenotype and allele between the PD group and the control group of Uygur populationwere no significant difference(P>0.05).The frequencies of Ala746Thr genotype andallele between the PD group and the control group of Han population were nosignificant difference(P>0.05).The frequencies of Ala746Thr genotype and allelebetween male and female groups of PD were no significant difference(P>0.05).Nodifferences in Ala746Thr allele and genotype frequencies between the PD and thecontrol of age(P>0.05).(2)A statistically significant difference was observed betweenthe EOPD group and the control group of Uygur and Han in IVS27-3C>T genotypicand allelic frequencies(χ~2=10.24,P=0.006andχ~2=11.67,P=0.001);The EOPDgroup who carried T allele had more risk than the control group had(OR=0.33,95%CI:0.17~0.64).A statistically significant difference was observed between the Uygur and Han groups of EOPD in IVS27-3C>T genotypic and allelicfrequencies(P<0.05andχ~2=18.499, P=0.000);The Han who carried T allele hadmore risk than the Uygur had(OR=13.81,95%CI:3.17~60.21).There were nodifferences between the EOPD group and the control group of Uygur in IVS27-3C>Tgenotypic and allelic frequencies(P>0.05andχ~2=2.648,P=0.104);A statisticallysignificant difference was observed between the EOPD group and the control group ofHan in IVS27-3C>T genotypic and allelic frequencies(P<0.05and χ~2=21.720,P=0.000).The Han who carried T allele had more risk than the no carriers(OR=0.16,95%CI:0.07~0.37).The frequencies of IVS27-3C> T genotype and allelebetween male and female groups of EOPD were no significant difference(χ~2=5.575,P=0.065andχ~2=0.118, P=0.731). Conclusion:The polymorphism Ala746Thr ofATP13A2gene were not significantly different between the Xinjiang Uygur and Hanpopulations;The genotypic and allelic frequencies of IVS27-3C>T of ATP13A2genewith EOPD between the Uygurs and the Hans are obviously different,T alleles of thetwo polymorphism increased the risk of EOPD in XinJiang Han population(≤50years),and may be associated with EOPD in han Chinese population.