Associations of ATG7 rs1375206 polymorphism and elevated plasma ATG7 levels with late-onset sporadic Parkinson’s disease in a cohort of Han Chinese from southern 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.

Keywords:

• Autophagy-related gene 7
• single nucleotide polymorphism
• Parkinson’s disease
• association

Disclosure statement

The authors report no actual or potential conflicts of interest related to this manuscript. Appropriate approval was obtained for the study protocol, and the appropriate procedures were followed concerning human subjects.

Author contributions

ZXY, CYS, ZH, and CXY performed the molecular studies and drafted the manuscript. ZXY, ZH, and CYS performed the statistical analysis. ZXY, CYS, WL, and LXX conceived the study and participated in its design and coordination. All authors read and approved the final manuscript.

Additional information

Funding

This work was supported by the Medical and Health Research Project of Hangzhou City (no. 20150633B82). We thank Editage (https://www.editage.cn/) for their linguistic assistance during the preparation of this manuscript.