Xiyao Zhao1, Yusen Chen2, Li Wang1, Xiangxin Li1, Xiaoyi Chen2, Hao Zhang3. 1. Department of Neurology, The Second Affiliated Hospital (Jiande Branch), School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, China. 2. Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong Province, China. 3. Department of Neurology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China.
Abstract
Background: Autophagy-related gene 7 (ATG7) plays a key role in autophagy and is strongly implicated in Parkinson's disease (PD). This study investigated the associations of rs1375206 polymorphism in ATG7 gene promoter and plasma ATG7 levels with late-onset sporadic PD in a cohort of Han Chinese from southern China. Methods: Variant genotypes were identified using polymerase chain reaction-restriction fragment length polymorphism and gene sequencing in 124 patients with late-onset sporadic PD, as well as in 105 age- and sex-matched healthy controls. Plasma ATG7 levels were determined using an enzyme-linked immunosorbent assay. Results: No significant differences in genotype distributions were found between the two groups. Stratification analyses by sex and clinical motor subtypes revealed that the differences remained non-significant in each subgroup (all p > 0.05). Plasma ATG7 protein levels were significantly higher in the PD group than in the control group (p = 0.000). Haplotype analysis demonstrated that the A-T haplotype was significantly associated with late-onset sporadic PD (p = 0.045). Conclusion: Our study suggests that the rs1375206 polymorphism in ATG7 may not be associated with late-onset sporadic PD; however, high plasma ATG7 levels and the A-T haplotype may be associated with susceptibility to late-onset sporadic PD in the Han population from Zhejiang and Guangdong provinces.
Background: Autophagy-related gene 7 (ATG7) plays a key role in autophagy and is strongly implicated in Parkinson's disease (PD). This study investigated the associations of rs1375206 polymorphism in ATG7 gene promoter and plasma ATG7 levels with late-onset sporadic PD in a cohort of Han Chinese from southern China. Methods: Variant genotypes were identified using polymerase chain reaction-restriction fragment length polymorphism and gene sequencing in 124 patients with late-onset sporadic PD, as well as in 105 age- and sex-matched healthy controls. Plasma ATG7 levels were determined using an enzyme-linked immunosorbent assay. Results: No significant differences in genotype distributions were found between the two groups. Stratification analyses by sex and clinical motor subtypes revealed that the differences remained non-significant in each subgroup (all p > 0.05). Plasma ATG7 protein levels were significantly higher in the PD group than in the control group (p = 0.000). Haplotype analysis demonstrated that the A-T haplotype was significantly associated with late-onset sporadic PD (p = 0.045). Conclusion: Our study suggests that the rs1375206 polymorphism in ATG7 may not be associated with late-onset sporadic PD; however, high plasma ATG7 levels and the A-T haplotype may be associated with susceptibility to late-onset sporadic PD in the Han population from Zhejiang and Guangdong provinces.
Entities:
Keywords:
Autophagy-related gene 7; Parkinson’s disease; association; single nucleotide polymorphism