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The Effect of Genetic Predisposition to Alzheimer’s Disease and Related Traits on Recruitment Bias in a Study of Cognitive Aging

Published online by Cambridge University Press:  21 July 2023

Lina M. Gomez*
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Brittany L. Mitchell
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Kerrie McAloney
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Jessica Adsett
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Natalie Garden
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Madeline Wood
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Santiago Diaz-Torres
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia
Luis M. Garcia-Marin
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia
Michael Breakspear
School of Psychological Sciences, The University of Newcastle, Newcastle, New South Wales, Australia
Nicholas G. Martin
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Michelle K. Lupton
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Queensland, Australia
Corresponding author: Lina Gomez; Email:
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The recruitment of participants for research studies may be subject to bias. The Prospective Imaging Study of Ageing (PISA) aims to characterize the phenotype and natural history of healthy adult Australians at high future risk of Alzheimer’s disease (AD). Participants approached to take part in PISA were selected from existing cohort studies with available genomewide genetic data for both successfully and unsuccessfully recruited participants, allowing us to investigate the genetic contribution to voluntary recruitment, including the genetic predisposition to AD. We use a polygenic risk score (PRS) approach to test to what extent the genetic risk for AD, and related risk factors predict participation in PISA. We did not identify a significant association of genetic risk for AD with study participation, but we did identify significant associations with PRS for key causal risk factors for AD, IQ, household income and years of education. We also found that older and female participants were more likely to take part in the study. Our findings highlight the importance of considering bias in key risk factors for AD in the recruitment of individuals for cohort studies.

© The Author(s), 2023. Published by Cambridge University Press on behalf of International Society for Twin Studies

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