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Correlation Study On DAB1 Rs17115303 And PTPRT Rs6030462 Gene Polymorphisms With The Potential Common Genetic Risks Of Sporadic Parkinson's Disease And Amyotrophic Lateral Sclerosis In Chinese Han Population

Posted on:2022-08-02Degree:DoctorType:Dissertation
Country:ChinaCandidate:W W QiuFull Text:PDF
GTID:1484306506973859Subject:Neurology
Abstract/Summary:PDF Full Text Request
Objective:This present study was aimed to explore and verify new associated single nucleotide polymorphisms(SNPs)of SPD and SALS in Chinese population.At the same time,we use GWAS technology and the in-depth mining of SPD and SALS data in the post-GWAS era,and conduct verification in Chinese mainland population,to explore the common susceptibility genes or potential common risks of SPD and SALS.Methods:we screened the recent reported genes and their related loci possibly associated with SALS,chose 27 of single nucleotide polymorphism in 10 candidate genes,and performed the allelotyping and genotyping and biological informational analysis in530 SPD and 530 controls from Chinese Han populations of mainland(CHPM).Results:1.The result showed that polymorphisms in the DAB1 rs17115303 and the PTPRT rs6030462 were the potential common risk for both SPD and SALS in CHPM.The minor A allele of rs17115303 exhibited an increased risk for both SPD and SALS,while the C allele of rs17115303 exhibited a decreased risk for both SPD and SALS.And the minor A allele of rs6030462 exhibited an increased risk for both SPD and SALS,while the G allele of rs6030462 exhibited a decreased risk for both SPD and SALS.The minor alleles of rs17115303 in the DAB1 gene and rs6030462 in the PTPRT gene were correlated factors with both SPD and SALS,significantly increased the risk of both SPD and SALS.2.The polymorphism alteration of rs17115303 in the DAB1 gene and rs6030462 in the PTPRT gene might change transcription factor binding sites,secondary structures,lnc RNA hits and nervous system regulation networks,which involved in series of biological processes associated with the development,differentiation,neuro-genesis,migration,axonogenesis,adhesion and phosphate-containing compound metabolic process of neural cells.Conclusions:The data suggested that polymorphisms of DAB1 rs17115303 and PTPRT rs6030462 are potential common genetic risks of SPD and SALS in CHPM,play some roles through changing some biologic messages and processes in the pathogenesis of SPD and SALS.
Keywords/Search Tags:Sporadic Parkinson's disease, Sporadic amyotrophic lateral sclerosis, DAB1, PTPRT, Chinese Han population
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