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| PMID |
|
|
| TITLE |
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| Australian Parkinson's Genetics Study (APGS): pilot (n=1532). |
|
| ABSTRACT |
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| PURPOSE |
NlmCategory: OBJECTIVE |
| 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 |
NlmCategory: METHODS |
| 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. 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 |
NlmCategory: UNASSIGNED |
| 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. 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. 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 |
NlmCategory: UNASSIGNED |
| 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. 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. 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. 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. |
| © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| entrez |
2022/02/26 05:42 |
| pubmed |
2022/02/27 06:00 |
| medline |
2022/02/27 06:00 |
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| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Bivol S |
|
Bivol |
Svetlana |
S |
|
QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. |
| Mellick GD |
|
Mellick |
George D |
GD |
|
Griffith Institute for Drug Discovery (GRIDD), Griffith University, Brisbane, QLD, Australia. |
| Gratten J |
|
Gratten |
Jacob |
J |
|
Mater Research, Translational Research Institute, Brisbane, QLD, Australia. |
| Parker R |
|
Parker |
Richard |
R |
|
QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. |
| Mulcahy A |
|
Mulcahy |
Aoibhe |
A |
|
School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia. |
| Mosley PE |
|
Mosley |
Philip E |
PE |
|
Queensland Brain Institute, The University of Queensland, Brisbane, QLD, Australia. |
| Poortvliet PC |
|
Poortvliet |
Peter C |
PC |
|
Griffith Institute for Drug Discovery (GRIDD), Griffith University, Brisbane, QLD, Australia. |
| Campos AI |
|
Campos |
Adrian I |
AI |
|
School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. |
| Mitchell BL |
|
Mitchell |
Brittany L |
BL |
|
School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia. |
| Garcia-Marin LM |
|
Garcia-Marin |
Luis M |
LM |
|
School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. |
| Cross S |
|
Cross |
Simone |
S |
|
QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. |
| Ferguson M |
|
Ferguson |
Mary |
M |
|
QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. |
| Lind PA |
|
Lind |
Penelope A |
PA |
|
School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. |
| Loesch DZ |
|
Loesch |
Danuta Z |
DZ |
|
School of Psychology and Public Health, La Trobe University, Melbourne, VIC, Australia. |
| Visscher PM |
|
Visscher |
Peter M |
PM |
|
Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia. |
| Medland SE |
|
Medland |
Sarah E |
SE |
|
School of Psychology, The University of Queensland, Brisbane, QLD, Australia. |
| Scherzer CR |
|
Scherzer |
Clemens R |
CR |
|
Program in Neuroscience, Harvard Medical School, Boston, MA, USA. |
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia miguel.renteria@qimrberghofer.edu.au Nick.Martin@qimr.edu.au. |
| Rentería ME |
|
Rentería |
Miguel E |
ME |
|
Center for Advanced Parkinson Research, Harvard Medical School and Brigham & Women's Hospital, Boston, MA, USA. |
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| INVESTIGATORS |
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| JOURNAL |
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| VOLUME: 12 |
| ISSUE: 2 |
| TITLE: BMJ open |
| ISOABBREVIATION: BMJ Open |
| YEAR: 2022 |
| MONTH: Feb |
| DAY: 25 |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: 2044-6055 |
| ISSNTYPE: Electronic |
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| MEDLINE JOURNAL |
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| MEDLINETA: BMJ Open |
| COUNTRY: England |
| ISSNLINKING: 2044-6055 |
| NLMUNIQUEID: 101552874 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| Journal Article |
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| COMMENTS AND CORRECTIONS |
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| GRANTS |
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| GENERAL NOTE |
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| KEYWORDS |
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| KEYWORD |
| Parkinson’s disease |
| epidemiology |
| genetics |
| neurology |
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| MESH HEADINGS |
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| SUPPLEMENTARY MESH |
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| GENE SYMBOLS |
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| CHEMICALS |
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| OTHER ID's |
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