Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations.

Journal: Cell

Volume: 179

Issue: 3

Year of Publication: 2020

Affiliated Institutions:  Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, VA , USA. Electronic address: roseann.peterson@vcuhealth.org. Division of Psychiatry and UCL Genetics Institute, University College London, London WT NF, UK. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA , USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA , USA; Department of Medicine, Harvard Medical School, Boston, MA , USA. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA , USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA , USA; Department of Medicine, Harvard Medical School, Boston, MA , USA; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA , USA. Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA , USA. Queensland Brain Institute and Queensland Centre for Mental Health Research, The University of Queensland, Brisbane, QLD , Australia. Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE AF, UK. Institute of Health and Wellbeing, University of Glasgow, Glasgow G RZ, UK; Department of Medicine Solna, Karolinska Institute, Stockholm, SE , Sweden. Department of Psychiatry and Human Behavior, Warren Alpert Medical School, Brown University, Providence, RI , USA. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA , USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA , USA. Department of Psychiatry, State University of New York Downstate Medical Center, Brooklyn, NY , USA. Department of Psychology, Arizona State University, Tempe, AZ , USA. Department of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, VA , USA. Mental Health Section of MRC/UVRI and LSHTM Uganda Research Unit, P.O. Box , Entebbe, Uganda; Department of Psychiatry, Faculty of Medicine & Health Sciences, University of Stellenbosch, Cape Town, South Africa; Department of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda; Global Initiative for Neuropsychiatric Genetics Education in Research, Harvard T.H. Chan School of Public Health and Broad Institute, Boston, MA , USA. Department of Psychiatry, Faculty of Medicine & Health Sciences, University of Stellenbosch, Cape Town, South Africa; Department of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda; Global Initiative for Neuropsychiatric Genetics Education in Research, Harvard T.H. Chan School of Public Health and Broad Institute, Boston, MA , USA. Global Initiative for Neuropsychiatric Genetics Education in Research, Harvard T.H. Chan School of Public Health and Broad Institute, Boston, MA , USA; MRC Human Genetics Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, , South Africa. Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA , USA. Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY , USA. Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, SE , Sweden; Genetics and Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, SE AF, UK. Department of Psychiatry, Faculty of Medicine, Universidad de los Andes, Santiago , Chile; Mental Health Service, Clínica Universidad de los Andes, Santiago , Chile; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA. Department of Psychiatry, University Hospital and School of Medicine, Universidad Autonoma de Nuevo Leon, Monterrey, Mexico; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA. Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN , USA. Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA , USA.

Abstract summary 

Genome-wide association studies (GWASs) have focused primarily on populations of European descent, but it is essential that diverse populations become better represented. Increasing diversity among study participants will advance our understanding of genetic architecture in all populations and ensure that genetic research is broadly applicable. To facilitate and promote research in multi-ancestry and admixed cohorts, we outline key methodological considerations and highlight opportunities, challenges, solutions, and areas in need of development. Despite the perception that analyzing genetic data from diverse populations is difficult, it is scientifically and ethically imperative, and there is an expanding analytical toolbox to do it well.

Authors & Co-authors:  Peterson Roseann E RE Kuchenbaecker Karoline K Walters Raymond K RK Chen Chia-Yen CY Popejoy Alice B AB Periyasamy Sathish S Lam Max M Iyegbe Conrad C Strawbridge Rona J RJ Brick Leslie L Carey Caitlin E CE Martin Alicia R AR Meyers Jacquelyn L JL Su Jinni J Chen Junfang J Edwards Alexis C AC Kalungi Allan A Koen Nastassja N Majara Lerato L Schwarz Emanuel E Smoller Jordan W JW Stahl Eli A EA Sullivan Patrick F PF Vassos Evangelos E Mowry Bryan B Prieto Miguel L ML Cuellar-Barboza Alfredo A Bigdeli Tim B TB Edenberg Howard J HJ Huang Hailiang H Duncan Laramie E LE

Study Outcome 

Source Link: Visit source

Statistics
Citations :  Ahmad M, Sinha A, Ghosh S, Kumar V, Davila S, Yajnik CS, and Chandak GR (2017). Inclusion of Population-specific Reference Panel from India to the 1000 Genomes Phase 3 Panel Improves Imputation Accuracy. Sci. Rep 7, 6733.
Authors :  31
Identifiers
Doi : 10.1016/j.cell.2019.08.051
SSN : 1097-4172
Study Population
Male,Female
Mesh Terms
Data Accuracy
Other Terms
GWAS;admixed populations;ancestry;complex disease;cross-ancestry;diversity;population genetics;psychiatry;trans-ancestry;trans-ethnic
Study Design
Cross Sectional Study
Study Approach
Country of Study
Publication Country
United States