Objective: In order to identify genetic risk loci with sporadic Sporadic Parkinson'sdisease(SPD) we have conducted a genome-wide association study(GWAS),Discusses whether the single nucleotide polymorphisms(SNPs) of genetic riskassociated with SPD, SPD susceptibility genes, whether there is at home and abroadand the differences and preliminary clarify the role of the SNPs of genetic risk in SPDpathogenesis.Methods: The clinical dates and peripheral venous blood of200cases of confirmedSPD,200controls of healthy were collected. We statistical analyzed the clinicalrecords of SPD, extracting DNA respectively, determination DNA concentration andoptical density(OD), gene chip scanning, data analysis, pathway analysis, find outand there is a significant difference SPD related statistical significance genetic.Results: The mean age at oneset of200cases was59.3±10.8years,onset before40years and after80years was less.Male to female ratio was1.1:1; The mean age atoneset of200controls was59.8±11.6years. Male to female ratio was1.6:1; Through the quality control,864108SNPs have information of genes interpretation,7873SNPs have no information of genes interpretation;③Verify the susceptibilitygenes of SPD at home and abroad have reported: PARK2(rs9355958, rs12526148,rs9365352), LRRK2(rs10506151), SNCA (kgp9010977) gene;④Pathway analysisfound that three pathways contain199genes may be related with the SPD;⑤Findnew suspicious SPD risk genes: IRF2(rs10520563),MAP2K4(rs16946068), FASLG(rs2077690), RIPK1(kgp7992710), CRADD (kgp5340584), PIK3R1(rs6866288)genes in cell apoptosis pathway, PPARGC1A (rs618283) gene in mitochondrial geneexpression pathway, ACSL1(kgp7557877) gene in mitochondria β-fatty acidoxidation pathways.Conclusions: After GWAS with gene chip scanning,data analysis and pathwayanalysis using DNA pooling. Verify SPD susceptibility genes has found previously,and find new suspicious SPD susceptibility genes. Some susceptibility genes that maybe present in different populations, and plays an important role of disease; We the Chinese han nationality people may be have the different SPD susceptibility genesfrom people who came from Europe and the United States. This may play animportant role for the further SPD research on mechanism. |