Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level.

Chromosomes, Human, Pair 8 / genetics GTPase-Activating Proteins / genetics Genetic Linkage / genetics Genome-Wide Association Study Humans Oxyhemoglobins / genetics Sleep / genetics Tumor Suppressor Proteins / genetics Whole Genome Sequencing / methods
The Trans-Omics for Precision Medicine (TOPMed) program arterial oxyhemoglobin saturation linkage analysis sleep-disordered breathing whole-genome sequencing association analyses

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:
07 11 2019
Historique:
received: 05 05 2019
accepted: 02 10 2019
pubmed: 2 11 2019
medline: 1 4 2020
entrez: 1 11 2019
Statut: ppublish

Résumé

Average arterial oxyhemoglobin saturation during sleep (AvSpO

Identifiants

DOI: 10.1016/j.ajhg.2019.10.002 PMID: 31668705 PMC: PMC6849112
pubmed: 31668705
pii: S0002-9297(19)30390-8
doi: 10.1016/j.ajhg.2019.10.002
pmc: PMC6849112
pii:
doi:

Substances chimiques

DLC1 protein, human 0
GTPase-Activating Proteins 0
Oxyhemoglobins 0
Tumor Suppressor Proteins 0

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

1057-1068

Subventions

Organisme : NHGRI NIH HHS
ID : R01 HG003054
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL046380
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL130114
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL113338
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL007567
Pays : United States
Organisme : NHLBI NIH HHS
ID : K01 HL135405
Pays : United States
Organisme : NHLBI NIH HHS
ID : R35 HL135818
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG011052
Pays : United States

Informations de copyright

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

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Auteurs

Jingjing Liang (J)

Department of Population and Quantitative Health Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA.

Brian E Cade (BE)

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA, 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA.

Karen Y He (KY)

Department of Population and Quantitative Health Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA.

Heming Wang (H)

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA, 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA.

Jiwon Lee (J)

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA.

Tamar Sofer (T)

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA, 02115, USA.

Stephanie Williams (S)

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA, 02115, USA.

Ruitong Li (R)

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA, 02115, USA.

Han Chen (H)

Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Center for Precision Health, School of Public Health and School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.

Daniel J Gottlieb (DJ)

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA, 02115, USA; VA Boston Healthcare System, Boston, MA 02132, USA.

Daniel S Evans (DS)

California Pacific Medical Center Research Institute, San Francisco, CA 94107, USA.

Xiuqing Guo (X)

Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90509, USA; Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90509, USA.

Sina A Gharib (SA)

Department of Medicine, Computational Medicine Core, Center for Lung Biology, UW Medicine Sleep Center, University of Washington, Seattle, WA 98195, USA.

Lauren Hale (L)

Family, Population, and Preventive Medicine, Program in Public Health, Stony Brook University School of Medicine, Stony Brook, NY 11794, USA.

David R Hillman (DR)

Department of Pulmonary Physiology and Sleep Medicine, Sir Charles Gairdner Hospital, Perth, Western Australia 6009, Australia.

Pamela L Lutsey (PL)

Division of Epidemiology & Community Health, School of Public Health, University of Minnesota, Minneapolis, MN 55455, USA.

Sutapa Mukherjee (S)

Sleep Health Service, Respiratory and Sleep Service, Southern Adelaide Local Health Network, Adelaide, South Australia 5042, Australia; Adelaide Institute for Sleep Health, Flinders University, Adelaide, South Australia 5042, Australia.

Heather M Ochs-Balcom (HM)

Department of Epidemiology and Environmental Health, School of Public Health and Health Professions, University at Buffalo, Buffalo, NY 14214, USA.

Lyle J Palmer (LJ)

School of Public Health, University of Adelaide, South Australia 5000, Australia.

Jessica Rhodes (J)

Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA(19)Center for Genomic Medicine and Department of Anesthesia, Pain and Critical Care Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Anesthesia, Pain and Critical Care Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

Shaun Purcell (S)

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA, 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA.

Sanjay R Patel (SR)

Division of Pulmonary, Allergy, and Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.

Richa Saxena (R)

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA, 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA(19)Center for Genomic Medicine and Department of Anesthesia, Pain and Critical Care Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Anesthesia, Pain and Critical Care Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

Katie L Stone (KL)

California Pacific Medical Center Research Institute, San Francisco, CA 94107, USA.

Weihong Tang (W)

Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN 55454, USA.

Gregory J Tranah (GJ)

California Pacific Medical Center Research Institute, San Francisco, CA 94107, USA.

Eric Boerwinkle (E)

Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

Xihong Lin (X)

Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.

Yongmei Liu (Y)

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

Bruce M Psaty (BM)

Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology and Health Services, University of Washington, Seattle, WA 98101, USA; Kaiser Permanente Washington Health Research Institute, Seattle, WA 98101, USA.

Ramachandran S Vasan (RS)

Framingham Heart Study, Framingham, MA 01702, USA; Section of Preventive Medicine and Epidemiology, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA; Section Cardiology, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA; Department of Epidemiology, Boston University School of Public Health, Boston, MA 02118, USA.

Michael H Cho (MH)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Ani Manichaikul (A)

Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA; Department of Public Health Sciences, Biostatistics Section, University of Virginia, Charlottesville, VA 22908, USA.

Edwin K Silverman (EK)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.

R Graham Barr (RG)

Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA.

Stephen S Rich (SS)

Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.

Jerome I Rotter (JI)

Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90509, USA; Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90509, USA.

James G Wilson (JG)

Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
A list of members and affiliations appears in the Supplemental Data.
A list of members and affiliations appears in the Supplemental Data.

Susan Redline (S)

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA, 02115, USA; Division of Pulmonary, Critical Care and Sleep Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA. Electronic address: sredline@bwh.harvard.edu.

Xiaofeng Zhu (X)

Department of Population and Quantitative Health Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address: xxz10@case.edu.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes de mammifère › Chromosomes humains › Chromosomes humains 6-12 et X › Chromosomes humains de la paire 8 › Sequencing Analysis at 8p23 Identifies...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Régulateurs des protéines G › Protéines d'activation de la GTPase › Sequencing Analysis at 8p23 Identifies...
questionsmedicales.fr › Phénomènes génétiques › Liaison génétique › Sequencing Analysis at 8p23 Identifies...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Sequencing Analysis at 8p23 Identifies...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Sequencing Analysis at 8p23 Identifies...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Hémoglobines › Oxyhémoglobines › Sequencing Analysis at 8p23 Identifies...
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Sommeil › Sequencing Analysis at 8p23 Identifies...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines suppresseurs de tumeurs › Sequencing Analysis at 8p23 Identifies...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Sequencing Analysis at 8p23 Identifies...