The Australian Parkinson’s Genetics Study (APGS) - pilot (N = 1,532)

Purpose Parkinson’s disease (PD) is a neurodegenerative disorder associated with progressive disability. While the precise aetiology is unknown, there is evidence of significant genetic and environmental influences on individual risk. The Australian Parkinson’s Genetics Study (APGS) seeks to study genetic and patient-reported data from a large cohort of individuals with PD in Australia to understand the sociodemographic, genetic, and environmental basis of PD susceptibility, symptoms and progression. Participants In the pilot phase reported here, 1,819 participants were recruited through assisted mailouts facilitated by Services Australia based on having three or more prescriptions for anti-PD medications in their Pharmaceutical Benefits Scheme (PBS) records. The average age at the time of the questionnaire was 64 ± 6 years. We collected patient-reported PD information and socio-demographic variables via an online (93% of the cohort) or paper-based (7%) questionnaire. One thousand five hundred thirty-two participants (84.2%) met all inclusion criteria, and 1,499 provided a DNA sample via traditional post. Findings to date 65% of participants were male, and 92% identified as being of European descent. A previous traumatic brain injury was reported by 16% of participants and was correlated with a younger age of symptom onset. At the time of the questionnaire, constipation (36% of participants), depression (34%), anxiety (17%), melanoma (16%) and diabetes (10%) were the most reported comorbid conditions. Future plans We plan to recruit sex- and age-matched unaffected controls, genotype all participants, and collect non-motor symptoms and cognitive function data. Future work will explore the role of genetic and environmental factors in the aetiology of PD susceptibility, onset, symptoms, and progression, including as part of international PD research consortia. Strengths and limitations of this study ### Competing Interest Statement CRS has collaborated with Pfizer, Opko, Proteome Sciences, Genzyme Inc; has consulted for Genzyme; has served as Advisor to the Michael J. Fox Foundation, NIH, Department of Defense; is on the Scientific Advisory Board of the American Parkinson Disease Association; has received funding from the NIH, the U.S. Department of Defense, the Harvard NeuroDiscovery Center, the Michael J. Fox Foundation, and American Parkinson Disease Association. ### Funding Statement MER thanks support of Australia's National Health and Medical Research Council (NHMRC) and the Australian Research Council (ARC) through a Research Fellowship (GNT1102821). AIC and LMGM are supported by UQ Research Training Scholarships from The University of Queensland (UQ). JG thanks the NHMRC (1127440) and Mater Foundation for support. SEM is supported by an NHMRC Investigator grant (APP1172917). The views expressed are those of the authors and not necessarily those of the affiliated or funding institutions. DZL was supported by the National Institutes of Child Health and Human Development Grant, US, No HD 36071. ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: This study has been approved by the Human Research Ethics Committee of the QIMR Berghofer Medical Research Institute (P3711). I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes Data is available upon reasonable request and ethics review and approval for research purposes, in anonymised form, to preserve participants' identities. Inquiries from potential scientific collaborators can be directed to the corresponding authors (Nick.Martin{at}qimrberghofer.edu.au and Miguel.Renteria{at}qimrberghofer.edu.au)