DNA Sequence Variation in

Activin Receptors, Type I / genetics Algorithms Diabetes Mellitus, Type 2 / genetics Exome / genetics Genetic Predisposition to Disease / genetics Genome-Wide Association Study Humans Sequence Analysis, DNA / methods

Journal

Diabetes
ISSN: 1939-327X
Titre abrégé: Diabetes
Pays: United States
ID NLM: 0372763

Informations de publication

Date de publication:
01 2019
Historique:
received: 14 08 2018
accepted: 21 10 2018
pubmed: 6 11 2018
medline: 26 3 2019
entrez: 4 11 2018
Statut: ppublish

Résumé

A genetic predisposition to higher waist-to-hip ratio adjusted for BMI (WHRadjBMI), a measure of body fat distribution, associates with increased risk for type 2 diabetes. We conducted an exome-wide association study of coding variation in UK Biobank (405,569 individuals) to identify variants that lower WHRadjBMI and protect against type 2 diabetes. We identified four variants in the gene

Identifiants

DOI: 10.2337/db18-0857 PMID: 30389748 PMC: PMC6302541
pubmed: 30389748
pii: db18-0857
doi: 10.2337/db18-0857
pmc: PMC6302541
doi:

Substances chimiques

ACVR1C protein, human EC 2.7.11.30
Activin Receptors, Type I EC 2.7.11.30

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

Pagination

226-234

Subventions

Organisme : British Heart Foundation
ID : RG2000010
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RG/13/13/30194
Pays : United Kingdom
Organisme : British Heart Foundation
ID : CS/14/2/30841
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RG/18/13/33946
Pays : United Kingdom
Organisme : NIGMS NIH HHS
ID : U54 GM115428
Pays : United States
Organisme : NHLBI NIH HHS
ID : RC2 HL102925
Pays : United States
Organisme : Medical Research Council
ID : MC_PC_17228
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RG/18/10/33842
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : RC2 HL102923
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG003067
Pays : United States
Organisme : NHLBI NIH HHS
ID : RC2 HL102926
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201300048C
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL127564
Pays : United States
Organisme : NHLBI NIH HHS
ID : RC2 HL102924
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201300049C
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007205
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201300047C
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201300050C
Pays : United States
Organisme : NHLBI NIH HHS
ID : RC2 HL103010
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201300046C
Pays : United States
Organisme : NHGRI NIH HHS
ID : K08 HG010155
Pays : United States
Organisme : Medical Research Council
ID : MC_QA137853
Pays : United Kingdom

Informations de copyright

© 2018 by the American Diabetes Association.

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Auteurs

Connor A Emdin (CA)

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
ORCID: 0000-0002-2385-8259

Amit V Khera (AV)

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.

Krishna Aragam (K)

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.

Mary Haas (M)

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.

Mark Chaffin (M)

Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.

Derek Klarin (D)

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA.

Pradeep Natarajan (P)

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.

Alexander Bick (A)

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.

Seyedeh M Zekavat (SM)

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Yale Medical School and Department of Computational Biology and Bioinformatics, Yale University, New Haven, CT.

Akihiro Nomura (A)

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.

Diego Ardissino (D)

Division of Cardiology, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy.
Associazione per lo Studio della Trombosi in Cardiologia, Pavia, Italy.

James G Wilson (JG)

Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS.

Heribert Schunkert (H)

Deutsches Herzzentrum München, Technische Universität München, and Deutsches Zentrum für Herz-Kreislauf-Forschung, München, Germany.

Ruth McPherson (R)

University of Ottawa Heart Institute, Ottawa, Ontario, Canada.

Hugh Watkins (H)

Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, U.K.
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, U.K.

Roberto Elosua (R)

Cardiovascular Epidemiology and Genetics, Hospital del Mar Medical Research Institute, Barcelona, Spain.
CIBER Enfermedades Cardiovasculares (CIBERCV), Barcelona, Spain.
Facultat de Medicina, Universitat de Vic-Central de Cataluña, Vic, Spain.

Matthew J Bown (MJ)

Department of Cardiovascular Sciences, University of Leicester, and NIHR Leicester Biomedical Research Centre, Leicester, U.K.

Nilesh J Samani (NJ)

Department of Cardiovascular Sciences, University of Leicester, and NIHR Leicester Biomedical Research Centre, Leicester, U.K.

Usman Baber (U)

The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY.

Jeanette Erdmann (J)

Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
DZHK (German Research Centre for Cardiovascular Research) partner site Hamburg/Lübeck/Kiel, Lübeck, Germany.

Namrata Gupta (N)

Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.

John Danesh (J)

Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, U.K.
Wellcome Trust Sanger Institute, Hinxton, Cambridge, U.K.
National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics, University of Cambridge. Cambridge, U.K.

Danish Saleheen (D)

Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Center for Non-Communicable Diseases, Karachi, Pakistan.

Stacey Gabriel (S)

Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.

Sekar Kathiresan (S)

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA skathiresan1@mgh.harvard.edu.
Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
ORCID: 0000-0002-6201-5334

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Classifications MeSH

Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs peptidiques › Récepteur facteur croissance › Récepteurs TGF-bêta › Récepteur activine › Récepteur activine, type 1 › DNA Sequence Variation in
Recherchemedicale.com › Sciences de l'information › Méthodologies informatiques › Algorithmes › DNA Sequence Variation in
Recherchemedicale.com › Maladies endocriniennes › Diabète › Diabète de type 2 › DNA Sequence Variation in
Recherchemedicale.com › Phénomènes génétiques › Structures génétiques › Génome › Exome › DNA Sequence Variation in
Recherchemedicale.com › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › DNA Sequence Variation in
Recherchemedicale.com › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › DNA Sequence Variation in
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › DNA Sequence Variation in
Recherchemedicale.com › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › DNA Sequence Variation in