Year: 2022
Type: article
Study design: Observational Study
Abstract: 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. Article summary Strengths and limitations of this study We used a time- and cost-effective recruitment method that enabled us to reach out to a random sample of individuals who have been prescribed medications for Parkinson’s disease across all over Australia to invite them to participate in this study. The identities of letter recipients remained private and confidential and were not shared with the researchers. However, those recipients who were interested and willing to participate were directed to a website where they could sign up and provide informed consent. The source database only captures individuals who have been prescribed medications to treat Parkinson’s disease in Australia and who are eligible for Medicare. Those without an official diagnosis, not receiving treatment, or not eligible for government subsidies are not included. We collected a wide range of patient-reported variables relevant to disease onset, diagnosis, symptoms, medical comorbidities, lifestyle, and family history in a large cohort of participants. However, some variables might not be as accurate as when measured by a specialist clinician. Given the 9% response rate to our single-letter invitation, there is a substantial risk of self-selection bias. Thus, patient characteristics for this cohort might differ from those of the typical population of individuals with Parkinson’s disease in Australia.
Source: BMJ Open
Authors: Svetlana Bivol, George D. Mellick, Jacob Gratten, Richard Parker, Aoibhe Mulcahy, Philip Mosley, Peter C. Poortvliet, Adrian I. Campos, Brittany L. Mitchell, Luis M. Garcia-Marin, Simone Cross, Mary Ferguson, Penelope A. Lind, Danuta Z. Loesch, Peter M. Visscher, Sarah E. Medland, Clemens R. Scherzer, Nicholas G. Martin, Miguel E. Rentería
Institutions: QIMR Berghofer Medical Research Institute, Griffith University, Translational Research Institute, Mater Research, Queensland University of Technology, The University of Queensland, La Trobe University, Institute for Molecular Bioscience, Brigham and Women's Hospital, Harvard University, Massachusetts General Hospital, University of California, San Francisco, Global Brain Health Institute
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,839
Funders: U.S. Department of Defense, Michael J. Fox Foundation for Parkinson's Research, Harvard NeuroDiscovery Center, Pfizer, American Parkinson Disease Association, Innovative Research Group Project of the National Natural Science Foundation of China, Mater Foundation, University of Queensland, National Institutes of Health, Medical Research Council, Australian Research Council, National Health and Medical Research Council, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G1118901184, G3377182240, Advancing our understanding of Psychiatric Disorders through Imaging and Genetics, Uncovering the Function of Susceptibility Variants in Alzheimer's Disease: From GWAS to Cell-Type Specific eQTLs and mQTLs, G5513259715, Understanding the etiology of psychiatric disorders through whole genome analyses, G6898834946, G8263194524, Genotype-Phenotype Relationships in Fragile X Families
OpenAlex ID: W4214619434