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Interpreting disease genome-wide association studies and polygenetic risk scores given eligibility and study design considerations.
Schooling, Catherine Mary; Terry, Mary Beth.
Afiliação
  • Schooling CM; Li Ka Shing Faculty of Medicine, School of Public Health, The University of Hong Kong, Hong Kong SAR, China.
  • Terry MB; Graduate School of Public Health and Health Policy, The City University of New York, New York City, New York, USA.
Genet Epidemiol ; 2024 May 26.
Article em En | MEDLINE | ID: mdl-38797991
ABSTRACT
Genome-wide association studies (GWAS) have been helpful in identifying genetic variants predicting cancer risk and providing new insights into cancer biology. Increasing use of genetically informed care, as well as genetically informed prevention and treatment strategies, have also drawn attention to some of the inherent limitations of cancer genetic data. Specifically, genetic endowment is lifelong. However, those recruited into cancer studies tend to be middle-aged or older people, meaning the exposure most likely starts before recruitment, as opposed to exposure and recruitment aligning, as in a trial or a target trial. Studies in survivors can be biased as a result of depletion of the susceptibles, here specifically due to genetic vulnerability and the cancer of interest or a competing risk. In addition, including prevalent cases in a case-control study will make the genetics of survival with cancer look harmful (Neyman bias). Here, we describe ways of designing GWAS to maximize explanatory power and predictive utility, by reducing selection bias due to only recruiting survivors and reducing Neyman bias due to including prevalent cases alongside using other techniques, such as selection diagrams, age-stratification, and Mendelian randomization, to facilitate GWAS interpretability and utility.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article