The New Zealand Parkinson’s environment and gene study (NZPEGS) is a collaborative study investigating the genetic, environmental exposures, and other lifestyle factors associated with Parkinson’s disease (PD) focused on the New Zealand context. NZPEGS is actively recruiting people with Parkinson’s disease from across New Zealand and aims to provide insight into local risk factors and possible protective factors to help further our understanding of the causes of the disease.
Numerous environmental factors influence PD risk, including pesticides (a risk factor) and caffeine intake and smoking (protective factors). Genetic contributions to PD range from monogenic mutations causing severe early-onset disease to low-risk polygenic risk factors. Mutations in the lysosomal gene GBA1 gene are common in PD and exacerbate cognitive symptoms like dementia. Recent studies suggest that variants in lysosomal PD risk genes, like GBA1, modify susceptibility to environmental risk factors such as pesticide exposure (Ngo et al., 2024).
Using a long-read nanopore sequencing method we have previously developed and refined (Graham et al., 2020), we sought to characterise GBA1 variant in patients from the NZPEGS study to understand the interaction between GBA1 variants, environmental risk factors and disease symptom severity. Our ongoing sequencing efforts will provide insights into why certain individuals are predisposed to PD, enabling targeted preventive strategies.
The nanopore GBA1 sequencing is currently underway, and our poster will present detailed findings and conclusions from this study.