Trans‐ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study-Reference-Cited by-同舟云学术

Trans‐ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study

Published:2023-07-14 Issue:12 Volume:19 Page:5765-5772
ISSN:1552-5260
Container-title:Alzheimer's & Dementia
language:en
Short-container-title:Alzheimer's & Dementia

Author:

Sleiman Patrick M.¹²³,Qu Hui‐Qi¹^ORCID,Connolly John J.¹,Mentch Frank¹,Pereira Alexandre⁴⁵,Lotufo Paulo A.⁴⁵,Tollman Stephen⁶,Choudhury Ananyo⁷,Ramsay Michele⁷,Kato Norihiro⁸,Ozaki Kouichi⁹,Mitsumori Risa⁹,Jeon Jae‐Pil¹⁰,Hong Chang Hyung¹¹,Son Sang Joon¹¹,Roh Hyun Woong¹¹,Lee Dong‐gi¹¹¹²,Mukadam Naaheed¹³,Foote Isabelle F.¹³¹⁴,Marshall Charles R.¹³¹⁴,Butterworth Adam¹⁵¹⁶,Prins Bram P.¹⁵¹⁶,Glessner Joseph T.¹²³,Hakonarson Hakon¹²³¹⁷¹⁸^ORCID,

Affiliation:

1. The Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Department of Pediatrics The Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

3. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

4. Faculdade de Medicina da Universidade de São Paulo São Paulo Brazil

5. Centro de Pesquisas Clínicas e Epidemiológicas Hospital Universitário Universidade de São Paulo São Paulo Brazil

6. MRC/Wits Rural Public Health and Health Transitions Research Unit (Agincourt) School of Public Health Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa

7. Sydney Brenner Institute for Molecular Bioscience Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa

8. National Center for Global Health and Medicine Tokyo Japan

9. Medical Genome Center Research Institute National Center for Geriatrics and Gerontology (NCGG) Obu Japan

10. Korea Biobank Project Korea National Institute of Health Osong South Korea

11. Department of Psychiatry Ajou University School of Medicine Suwon South Korea

12. Department of Biostatistics Epidemiology and Informatics The Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

13. Preventive Neurology Unit Wolfson Institute of Population Health Queen Mary University of London London UK

14. Genes & Health, Blizard Institute Queen Mary University of London London UK

15. MRC/BHF Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK

16. NIHR Blood and Transplant Research Unit in Donor Health and Genomics Department of Public Health and Primary Care University of Cambridge Cambridge UK

17. Division of Pulmonary Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

18. Faculty of Medicine University of Iceland Reykjavik Iceland

Abstract

AbstractBACKGROUNDAs a collaboration model between the International HundredK+ Cohorts Consortium (IHCC) and the Davos Alzheimer's Collaborative (DAC), our aim was to develop a trans‐ethnic genomic informed risk assessment (GIRA) algorithm for Alzheimer's disease (AD).METHODSThe GIRA model was created to include polygenic risk score calculated from the AD genome‐wide association study loci, the apolipoprotein E haplotypes, and non‐genetic covariates including age, sex, and the first three principal components of population substructure.RESULTSWe validated the performance of the GIRA model in different populations. The proteomic study in the participant sites identified proteins related to female infertility and autoimmune thyroiditis and associated with the risk scores of AD.CONCLUSIONSAs the initial effort by the IHCC to leverage existing large‐scale datasets in a collaborative setting with DAC, we developed a trans‐ethnic GIRA for AD with the potential of identifying individuals at high risk of developing AD for future clinical applications.

Publisher

Wiley

Subject

Psychiatry and Mental health,Cellular and Molecular Neuroscience,Geriatrics and Gerontology,Neurology (clinical),Developmental Neuroscience,Health Policy,Epidemiology

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