Research On The Association Between LRRK2Gene Polymorphism And Sporadic Parkinson’s Disease In A Chinese Han Population

ObjectiveTo determine if there were any association between LRRK2gene polymorphismsites S1647T、A419V and M1646T and sporadic Parkinson’s disease in a ChineseHan population from Xiamen in Fujian province． Meanwhile， to detect thedistribution of polymorphism sites K1637K and L1653L located in the same exon asS1647T and M1646T. We research into LRRK2gene polymorphism sites above-mentioned to explore pathogenesis of sporadic Parkinson’s disease at the molecularlevel.Methods1. one hundred and twelve inpatients and outpatients with the complete clinicalinformation of PD and without family history of PD, and one hundred and thirty onehealthy control were respectively recruited at Department of Neurology and PhysicalExamination Center, the First hospital of Xiamen．2. Peripheral blood was collected from subjects and genomic DNA extractionfrom white blood cell was performed, then two pairs of oligonucleotide primers forthe LRRK2gene were designed respectively to amplify the exon11and34of theLRRK2gene. Purified the PCR products and directed sequence the fragments in ABI3730sequencer for mutation screening analysis.3. Reverse sequencing information for all samples was read out in BioEdit softw-are，to make clear whether there are the presence of mutation sites in comparison withthe gene bank data. Statistical analysis of mutation rate of LRRK2genepolymorphism sites S1647T、A419V、M1646T、L1653L and K1637K in PD andhealthy control.Results1. There was difference between PD group and control group in S1647T polymo-rphism genotype frequency （χ2=2.067,P<0.05）,but no difference in genotype frequency（χ2=2.067,P>0.05）.There was no difference in between groups accordingto age and sex stratification（χ2=4.079,4.346,9.945,2.330; P>0.05）.2. Either there was no difference between PD group and control group in alleleand genotype frequency of K1637K polymorphism,or no difference according to agestratification and sex stratification（χ2=2.009，5.137，5.576，1.807；P>0.05）.3.None of the patients with PD and healthy controls was detected heterozygousor homozygous SNPs variants of LRRK2gene A419V、L1653L and M1646T．ConclusionOur study suggests that LRRK2gene polymorphism sites S1647T, A419V,M1646T, L1653L and K1637K is not a risk factor for PD in Xiamen City of FujianProvince, China.