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Principles and methods for transferring polygenic risk scores across global populations.
Kachuri, Linda; Chatterjee, Nilanjan; Hirbo, Jibril; Schaid, Daniel J; Martin, Iman; Kullo, Iftikhar J; Kenny, Eimear E; Pasaniuc, Bogdan; Witte, John S; Ge, Tian.
Afiliação
  • Kachuri L; Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.
  • Chatterjee N; Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA.
  • Hirbo J; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.
  • Schaid DJ; Department of Medicine Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Martin I; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Kullo IJ; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
  • Kenny EE; Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD, USA.
  • Pasaniuc B; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
  • Witte JS; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Ge T; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nat Rev Genet ; 25(1): 8-25, 2024 Jan.
Article em En | MEDLINE | ID: mdl-37620596
ABSTRACT
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in populations of predominantly European genetic ancestries can increase health disparities due to poor predictive performance in individuals of diverse and complex genetic ancestries. We describe genetic and modifiable risk factors that limit the transferability of PRSs across populations and review the strengths and weaknesses of existing PRS construction methods for diverse ancestries. Developing PRSs that benefit global populations in research and clinical settings provides an opportunity for innovation and is essential for health equity.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article