Sequencing of 640,000 exomes identifies


Journal

Science (New York, N.Y.)
ISSN: 1095-9203
Titre abrégé: Science
Pays: United States
ID NLM: 0404511

Informations de publication

Date de publication:
02 07 2021
Historique:
received: 08 12 2020
accepted: 17 05 2021
entrez: 2 7 2021
pubmed: 3 7 2021
medline: 14 7 2021
Statut: ppublish

Résumé

Large-scale human exome sequencing can identify rare protein-coding variants with a large impact on complex traits such as body adiposity. We sequenced the exomes of 645,626 individuals from the United Kingdom, the United States, and Mexico and estimated associations of rare coding variants with body mass index (BMI). We identified 16 genes with an exome-wide significant association with BMI, including those encoding five brain-expressed G protein-coupled receptors (

Identifiants

pubmed: 34210852
pii: 373/6550/eabf8683
doi: 10.1126/science.abf8683
pmc: PMC10275396
mid: NIHMS1888843
pii:
doi:

Substances chimiques

GPR75 protein, human 0
Receptors, G-Protein-Coupled 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NHLBI NIH HHS
ID : P01 HL034300
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK063491
Pays : United States
Organisme : Medical Research Council
ID : MC_QA137853
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_00017/2
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NCATS NIH HHS
ID : UL1 TR001881
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL139793
Pays : United States

Commentaires et corrections

Type : CommentIn
Type : CommentIn

Informations de copyright

Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

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Auteurs

Parsa Akbari (P)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Ankit Gilani (A)

Department of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.

Olukayode Sosina (O)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Jack A Kosmicki (JA)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Lori Khrimian (L)

Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Yi-Ya Fang (YY)

Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Trikaldarshi Persaud (T)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Victor Garcia (V)

Department of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.

Dylan Sun (D)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Alexander Li (A)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Joelle Mbatchou (J)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Adam E Locke (AE)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Christian Benner (C)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Niek Verweij (N)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Nan Lin (N)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Sakib Hossain (S)

Department of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.

Kevin Agostinucci (K)

Department of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.

Jonathan V Pascale (JV)

Department of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.

Ercument Dirice (E)

Department of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.

Michael Dunn (M)

Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

William E Kraus (WE)

Division of Cardiology, Duke University Medical Center, Durham, NC 27710, USA.
Duke Center for Living, Duke University Medical Center, Durham, NC 27705, USA.

Svati H Shah (SH)

Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA.
Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27701, USA.

Yii-Der I Chen (YI)

Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation, and Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.

Jerome I Rotter (JI)

Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation, and Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.

Daniel J Rader (DJ)

Department of Genetics, Perelman School of Medicine, University of Pennsylvania, PA 19104, USA.

Olle Melander (O)

Department of Clinical Sciences Malmö, Lund University, 221 00 Malmö, Sweden.
Department of Emergency and Internal Medicine, Skåne University Hospital, 214 28, Malmö, Sweden.

Christopher D Still (CD)

Geisinger Obesity Institute, Geisinger Health System, Danville, PA 17882, USA.

Tooraj Mirshahi (T)

Geisinger Obesity Institute, Geisinger Health System, Danville, PA 17882, USA.

David J Carey (DJ)

Geisinger Obesity Institute, Geisinger Health System, Danville, PA 17882, USA.

Jaime Berumen-Campos (J)

Faculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, 4360 Ciudad de México, Mexico.

Pablo Kuri-Morales (P)

Faculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, 4360 Ciudad de México, Mexico.

Jesus Alegre-Díaz (J)

Faculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, 4360 Ciudad de México, Mexico.

Jason M Torres (JM)

Nuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, England, UK.

Jonathan R Emberson (JR)

Nuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, England, UK.

Rory Collins (R)

Nuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, England, UK.

Suganthi Balasubramanian (S)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Alicia Hawes (A)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Marcus Jones (M)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Brian Zambrowicz (B)

Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Andrew J Murphy (AJ)

Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Charles Paulding (C)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Giovanni Coppola (G)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

John D Overton (JD)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Jeffrey G Reid (JG)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Alan R Shuldiner (AR)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Michael Cantor (M)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Hyun M Kang (HM)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Goncalo R Abecasis (GR)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Katia Karalis (K)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Aris N Economides (AN)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Jonathan Marchini (J)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

George D Yancopoulos (GD)

Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Mark W Sleeman (MW)

Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Judith Altarejos (J)

Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Giusy Della Gatta (G)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Roberto Tapia-Conyer (R)

Faculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, 4360 Ciudad de México, Mexico.

Michal L Schwartzman (ML)

Department of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.

Aris Baras (A)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA. luca.lotta@regeneron.com aris.baras@regeneron.com.

Manuel A R Ferreira (MAR)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.

Luca A Lotta (LA)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA. luca.lotta@regeneron.com aris.baras@regeneron.com.

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Classifications MeSH