Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies.

Algorithms Ethnicity / genetics Genome-Wide Association Study Humans Machine Learning Racial Groups / genetics Support Vector Machine
biobank ethnicity-specific trait loci genetic ancestry multi-ethnic cohort self-reported race/ethnicity stratified analysis trans-ethnic GWAS

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
03 10 2019
Historique:
received: 07 04 2019
accepted: 28 08 2019
pubmed: 1 10 2019
medline: 3 4 2020
entrez: 1 10 2019
Statut: ppublish

Résumé

Large-scale multi-ethnic cohorts offer unprecedented opportunities to elucidate the genetic factors influencing complex traits related to health and disease among minority populations. At the same time, the genetic diversity in these cohorts presents new challenges for analysis and interpretation. We consider the utility of race and/or ethnicity categories in genome-wide association studies (GWASs) of multi-ethnic cohorts. We demonstrate that race/ethnicity information enhances the ability to understand population-specific genetic architecture. To address the practical issue that self-identified racial/ethnic information may be incomplete, we propose a machine learning algorithm that produces a surrogate variable, termed HARE. We use height as a model trait to demonstrate the utility of HARE and ethnicity-specific GWASs.

Identifiants

DOI: 10.1016/j.ajhg.2019.08.012 PMID: 31564439 PMC: PMC6817526
pubmed: 31564439
pii: S0002-9297(19)30338-6
doi: 10.1016/j.ajhg.2019.08.012
pmc: PMC6817526
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

763-772

Subventions

Organisme : NINR NIH HHS
ID : R01 NR013520
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM073059
Pays : United States
Organisme : BLRD VA
ID : I01 BX003340
Pays : United States
Organisme : BLRD VA
ID : I01 BX003362
Pays : United States
Organisme : BLRD VA
ID : I01 BX002641
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM127063
Pays : United States

Investigateurs

J Michael Gaziano (JM)
Rachel Ramoni (R)
Jim Breeling (J)
Kyong-Mi Chang (KM)
Grant Huang (G)
Sumitra Muralidhar (S)
Christopher J O'Donnell (CJ)
Philip S Tsao (PS)
Sumitra Muralidhar (S)
Jennifer Moser (J)
Stacey B Whitbourne (SB)
Jessica V Brewer (JV)
John Concato (J)
Stuart Warren (S)
Dean P Argyres (DP)
Brady Stephens (B)
Mary T Brophy (MT)
Donald E Humphries (DE)
Nhan Do (N)
Shahpoor Shayan (S)
Xuan-Mai T Nguyen (XT)
Saiju Pyarajan (S)
Kelly Cho (K)
Elizabeth Hauser (E)
Yan Sun (Y)
Hongyu Zhao (H)
Peter Wilson (P)
Rachel McArdle (R)
Louis Dellitalia (L)
John Harley (J)
Jeffrey Whittle (J)
Jean Beckham (J)
John Wells (J)
Salvador Gutierrez (S)
Gretchen Gibson (G)
Laurence Kaminsky (L)
Gerardo Villareal (G)
Scott Kinlay (S)
Junzhe Xu (J)
Mark Hamner (M)
Kathlyn Sue Haddock (KS)
Sujata Bhushan (S)
Pran Iruvanti (P)
Michael Godschalk (M)
Zuhair Ballas (Z)
Malcolm Buford (M)
Stephen Mastorides (S)
Jon Klein (J)
Nora Ratcliffe (N)
Hermes Florez (H)
Alan Swann (A)
Maureen Murdoch (M)
Peruvemba Sriram (P)
Shing Shing Yeh (SS)
Ronald Washburn (R)
Darshana Jhala (D)
Samuel Aguayo (S)
David Cohen (D)
Satish Sharma (S)
John Callaghan (J)
Kris Ann Oursler (KA)
Mary Whooley (M)
Sunil Ahuja (S)
Amparo Gutierrez (A)
Ronald Schifman (R)
Jennifer Greco (J)
Michael Rauchman (M)
Richard Servatius (R)
Mary Oehlert (M)
Agnes Wallbom (A)
Ronald Fernando (R)
Timothy Morgan (T)
Todd Stapley (T)
Scott Sherman (S)
Gwenevere Anderson (G)
Elif Sonel (E)
Edward Boyko (E)
Laurence Meyer (L)
Samir Gupta (S)
Joseph Fayad (J)
Adriana Hung (A)
Jack Lichy (J)
Robin Hurley (R)
Brooks Robey (B)
Robert Striker (R)

Informations de copyright

Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Auteurs

Huaying Fang (H)

Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; VA Palo Alto Epidemiology Research and Information Center for Genomics, VA Palo Alto Health Care System, Palo Alto, CA 94304, USA.

Qin Hui (Q)

Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA 30322, USA; Atlanta VA Medical Center, Atlanta, GA 30033, USA.

Julie Lynch (J)

Edith Norse Rogers Memorial VA Medical Center, Bedford, MA 01730, USA; University of Massachusetts College of Nursing & Health Sciences, Boston, MA 02125, USA; VA Informatics and Computing Infrastructure, VA Salt Lake City Health Care System, Salt Lake City, UT 84148, USA.

Jacqueline Honerlaw (J)

Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA 02130, USA.

Themistocles L Assimes (TL)

VA Palo Alto Epidemiology Research and Information Center for Genomics, VA Palo Alto Health Care System, Palo Alto, CA 94304, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.

Jie Huang (J)

Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA 02130, USA; Cardiovascular Medicine Division, Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.

Marijana Vujkovic (M)

Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA 19104, USA; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Scott M Damrauer (SM)

Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA 19104, USA; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Saiju Pyarajan (S)

Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA 02130, USA; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

J Michael Gaziano (JM)

Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA 02130, USA; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

Scott L DuVall (SL)

VA Informatics and Computing Infrastructure, VA Salt Lake City Health Care System, Salt Lake City, UT 84148, USA; University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

Christopher J O'Donnell (CJ)

Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA 02130, USA; Cardiovascular Medicine Division, Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.

Kelly Cho (K)

Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA 02130, USA; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

Kyong-Mi Chang (KM)

Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Peter W F Wilson (PWF)

Atlanta VA Medical Center, Atlanta, GA 30033, USA; Department of Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.

Philip S Tsao (PS)

VA Palo Alto Epidemiology Research and Information Center for Genomics, VA Palo Alto Health Care System, Palo Alto, CA 94304, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.

Yan V Sun (YV)

Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA 30322, USA; Atlanta VA Medical Center, Atlanta, GA 30033, USA; Department of Biomedical Informatics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: yvsun@emory.edu.

Hua Tang (H)

Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; VA Palo Alto Epidemiology Research and Information Center for Genomics, VA Palo Alto Health Care System, Palo Alto, CA 94304, USA. Electronic address: huatang@stanford.edu.

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Classifications MeSH

questionsmedicales.fr › Sciences de l'information › Méthodologies informatiques › Algorithmes › Harmonizing Genetic Ancestry and...
questionsmedicales.fr › Caractéristiques de la population › Ethnies › Harmonizing Genetic Ancestry and...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Harmonizing Genetic Ancestry and...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Harmonizing Genetic Ancestry and...
questionsmedicales.fr › Sciences de l'information › Méthodologies informatiques › Algorithmes › Intelligence artificielle › Apprentissage machine › Harmonizing Genetic Ancestry and...
questionsmedicales.fr › Personnes › Nord-Américains › Groupes de population aux États-Unis › Populations d'origine continentale › Harmonizing Genetic Ancestry and...
questionsmedicales.fr › Sciences de l'information › Méthodologies informatiques › Algorithmes › Intelligence artificielle › Apprentissage machine › Apprentissage machine supervisé › Machine à vecteur de support › Harmonizing Genetic Ancestry and...