Study On Genetic Polymorphisms Associated With Sporadic Parkinsons Disease Potential Risk Loci Identified In Han Ancestry

Objective:To analyze the possible genetic polymorphisms and diagnosis of SPD in han Chinese population by using MassARRAY.Methods:The clinical material and peripheral venous blood of 398 Chinese Han SPD and 430 healthy adults were collected,30 of most possible associated candidate loci were chosen to be sequenced by using MassARRAY of sequenom and DNA sequencing.Furthermore,the possible biological functions were predicted.Results:1?The polymorphisms of rs863108,rs80315856,rs28499371 and rs2270568 related to the pathogenesis of SPD by mass spectrometry and first-generation sequencing;2?The T allele of rs863108 is the protective allele of SPD,and its A/T genotype reduces the risk of SPD.The T allele of rs80315856 is a risk site of SPD,and its G/T genotype is an increased risk for SPD.The T allele of rs28499371 is the protective allele of SPD,and its C/T genotype reduces the risk of SPD.The T/T genotype of rs2270568 increases the risk of SPD;3?These four SNPs play a role by changing the nuclear receptor binding site,transcription factor binding site,secondary structure of LncRAN and binding site and/or protein structure in the pathogenesis of SPD in han Chinese population.Conclusions:1?The polymorphism of rs863108,rs80315856,rs28499371 and rs2270568 were related to the pathogenesis of SPD in han Chinese population;2?Verified the SNP of rs863108 and rs80315856 that we reported earlier;3?These four SNP polymorphisms may affect the metabolism of sex hormones,abnormal ion deposition and hypoxia response,and increase the role of neuronal cell apoptosis and nerve myelin loss in the pathogenesis of SPD in han Chinese population.