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Research On The Association Between Gene Polymorphism And Sporadic Parkinson’s Disease In The Minnan Region Of China

Posted on:2015-01-17Degree:MasterType:Thesis
Country:ChinaCandidate:M W GuoFull Text:PDF
GTID:2284330422987764Subject:Neurology
Abstract/Summary:PDF Full Text Request
Background:The incidence of Parkinson’s Disease (PD) is second only to Alzheimer’s Diseasein neurodegenerative diseases,Clinically with static tremor, muscle stiffness,bradykinesia and posture reflex barriers as the main characteristics,but the cause hasnot yet fully clear. So far, many studies think it as the result of geneticpredisposition and environmental risk factors. The SNCA gene, LRRK2gene are themost closely related to PD susceptibility genes and the newly finds an ITGA8geneassociated with PD. So to research SNCA、LRRK2、ITGA8gene mutations associatedwith PD is of great significance for exploring the pathogenesis of PD and guidinggenetic research.Objective:To research SNCA gene: rs2301134、rs2301135、rs356221,LRRK2genepolymorphism locis: rs1491942, ITGA8gene: rs7077361associated between sporadicPD and controls in the Minnan region of China.Methods:1、0ne hundred and sixty eight inpatients and outpatients with complete clinicalinformation of PD and without family history of PD, and one hundred and seventyseven healthy control were respectively recruited at Department of Neurology andPhysical Examination Center, the First hospital of Xiamen from August2011toDecember2013.2、Extraction of peripheral venous blood, blood genomic DNA extracted, primers andprobe design augmentation, amplified PCR reaction and amplification products andpurification, and then to the SNaPshot reaction, line in3730sequencer sweep boardafter analysis.3、According to the results of the sweep board, Statistical analysis of genepolymorphism locis:rs2301134,rs2301135, rs356221, rs1491942, rs7077361between PD group and controls, and the frequency and significance in both groups.Results:1、the genotypes and alleles of rs2301135in SNCA is of statistically greatsignificance between PD group and control group(P=0.003,OR=0.272,95%CI=0.108~0.687),and C allele is a risk factor; the genotypes of rs2301134in SNCA isof statistically great significance between PD group and control group(P=0.032),butthe alleles of rs2301134is0f no significance (P=0.317);The genotypes and alleles of rs356221in SNCA is of no statistically significance between PD group and controlgroup (P=0.139).2、the genotypes and alleles of rs1491942in LRRK2is of statistically greatsignificance between PD group and control group (P=0.007, OR=0.62,95%CI=0.437~0.880),and there is statistically great significance between (CC+CG) andGG(P=0.003,OR=1.945,95%CI=1.246~3.307),C allele is a risk factor; According toage stratification and sex stratification, just LOPD and women’ group havestatistically great significance associated with control group (P=0.006,0.001).3、the genotypes and alleles of rs7077361in ITGA8is of no statistically greatsignificance between PD group and control group (P=1.000).Conclusions:Our study suggests that SNCA gene polymorphism site rs2301135-C may be riskfactors for sporadic PD patients in Han Chinese Minnan region;LRRK2genepolymorphism site rs1491942-C may be risk factors for late sporadic PD womenpatients in Han Chinese Minnan region;SNCA gene polymorphism sites rs2301134、rs356221and ITGA8gene polymorphism site rs7077361may be not risk factors forsporadic PD patients in the same area.
Keywords/Search Tags:gene, Sporadic Parkinson’s disease, polymorphism
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