RT Journal Article
SR Electronic
T1 Australian Parkinson’s Genetics Study (APGS): pilot (n=1532)
JF BMJ Open
JO BMJ Open
FD British Medical Journal Publishing Group
SP e052032
DO 10.1136/bmjopen-2021-052032
VO 12
IS 2
A1 Bivol, Svetlana
A1 Mellick, George D
A1 Gratten, Jacob
A1 Parker, Richard
A1 Mulcahy, Aoibhe
A1 Mosley, Philip E
A1 Poortvliet, Peter C
A1 Campos, Adrian I
A1 Mitchell, Brittany L
A1 Garcia-Marin, Luis M
A1 Cross, Simone
A1 Ferguson, Mary
A1 Lind, Penelope A
A1 Loesch, Danuta Z
A1 Visscher, Peter M
A1 Medland, Sarah E
A1 Scherzer, Clemens R
A1 Martin, Nicholas G
A1 Rentería, Miguel E
YR 2022
UL http://bmjopen.bmj.com/content/12/2/e052032.abstract
AB 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 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, 1819 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 records. The average age at the time of the questionnaire was 64±6 years. We collected patient-reported information and sociodemographic variables via an online (93% of the cohort) or paper-based (7%) questionnaire. One thousand five hundred and thirty-two participants (84.2%) met all inclusion criteria, and 1499 provided a DNA sample via traditional post.Findings to date 65% of participants were men, 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-matched 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.Data are available upon reasonable request. Inquiries from potential scientific collaborators can be directed to the corresponding authors (Nick.Martin@qimrberghofer.edu.au and Miguel.Renteria@qimrberghofer.edu.au).