Abstract
PurposeThere is growing evidence that autophagy-related gene 5 (ATG5) is involved in neural development, neuronal differentiation, and neurodegenerative diseases. The purpose of this study was to investigate the association between ATG5 gene single-nucleotide polymorphisms (SNPs) and Parkinson’s disease (PD) in the Han population.MethodsA case–control study was conducted in 120 PD patients and 100 healthy volunteers. MassArray platform was used to analyze polymorphisms in three different regions of ATG5 gene (rs510432, rs573775 and rs17587319). In the included subjects, 50 PD patients and 50 healthy volunteers were selected, and the plasma ATG5 concentration was detected by enzyme-linked immunosorbent assay (ELISA). The allele and genotype frequencies of SNPs were assessed using the SHEsis program.ResultsWe found a significant correlation between rs17587319 and PD, and the subcomponent showed a high correlation between rs17587319 with cognitive impairment and age at onset in PD patients. At the same time, the total plasma ATG5 level of PD patients and the plasma ATG5 expression level of early-onset Parkinson’s disease (EOPD) patients were significantly higher than the control group, while there was no significant difference of ATG5 expression between late-onset Parkinson’s disease (LOPD) patients and the control group.ConclusionThese findings suggest that genetic variations in the ATG5 gene and low levels of the ATG5 protein are associated with susceptibility to PD and with cognitive impairment in PD patients. ATG5 could be a potential biomarker to assess the severity and prognosis of PD.
Highlights
Parkinson’s disease (PD) is a common clinical neurodegenerative disease, which often occurs in elderly people
The genotype distribution of autophagy-related gene 5 (ATG5) polymorphism loci in PD and control group was in line with Hardy–Weinberg equilibrium test (HWE), which was representative of the population
We analyzed the association between the cases and the control group, only the allele frequency and genotype distribution of rs17587319 were significantly different between the control group and the PD group (P Allele < 0.0001, P Genotype < 0.0001), and the frequencies of C allele and CC genotype were significantly higher in PD patients
Summary
Parkinson’s disease (PD) is a common clinical neurodegenerative disease, which often occurs in elderly people. The main pathological features of PD are the degeneration and progressive loss of dopaminergic neurons in the substantia nigra dense part of the basal ganglia [1]. Some studies showed that the incidence of PD was increasing year by year [2, 3]. The risk factors of PD mainly include age, gender. Many genetic mutations that regulate autophagy genes or are associated with the autophagy lysosomal pathway (ALP) have been identified as risk factors of PD [9]. ALP is one of the main mechanisms for cell repair or elimination of abnormal proteins. It consists of four stages: induction of
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