Evidence map›Paper›PMID 32382064›Full record

ArticleNature communications2020

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.

James P Pirruccello, Alexander Bick, Minxian Wang, Mark Chaffin, Samuel Friedman, Jie Yao, Xiuqing Guo, Bharath Ambale Venkatesh, Kent D Taylor, Wendy S Post and 9 more

Abstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 155 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
155citing papers in PubMed, 8 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

155 citing papers in PubMed, 8 syntheses or guidelines pooled it.

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  9. Review
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  12. Article
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  16. Article
  17. Review
  18. Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026
    Review
  19. Clinical utility of polygenic risk scores in cardiovascular disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  20. Article

95 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

James P PirruccelloDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6088-4037
Alexander BickCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Minxian WangProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-3753-508X
Mark ChaffinProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1234-5562
Samuel FriedmanData Sciences Platform, Broad Institute, Cambridge, MA, USA.
Jie YaoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
Xiuqing GuoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
Bharath Ambale VenkateshDepartment of Radiology, Johns Hopkins University, Baltimore, MA, USA.
Kent D TaylorThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
Wendy S PostDepartment of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MA, USA.
Stephen RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.ORCID http://orcid.org/0000-0003-3872-7793
Joao A C LimaDepartment of Radiology, Johns Hopkins University, Baltimore, MA, USA.ORCID http://orcid.org/0000-0001-8756-6995
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
Anthony PhilippakisData Sciences Platform, Broad Institute, Cambridge, MA, USA.
Steven A LubitzDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.
Patrick T EllinorDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.
Amit V KheraDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.
Sekar KathiresanDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-6724-032X
Krishna G AragamDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA. karagam@mgh.harvard.edu.

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
Center for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2M
Institute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1M
Wake Forest Clinical and Translational Science AwardUL1TR001420 · NCATS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ARD, JAMY D, FOLEY, KRISTIE L · 2015 to 2023
$32.3M
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
SUBCLINICAL CARDIOVASCULAR DISEASE COORDINATING CENTERN01HC95159 · NHLBI · UNIVERSITY OF WASHINGTON · PI KRONMAL, RICHARD A · 2007 to 2014
$19.6M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--FIELD CENTERN01HC95160 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI WATSON, KAROL · 2007 to 2015
$7.7M
SUBCLINICAL CARDIOVASCULAR DISEASE STUDY-FIELD CENTERN01HC95164 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI LIU, KIANG · 2007 to 2015
$7.0M
SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--FIELD CENTERN01HC95161 · NHLBI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI SHEA, STEVEN · 2007 to 2014
$6.4M
NCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001420NHGRI NIH HHS U54 HG003067NHGRI NIH HHS UM1 HG008895NHLBI NIH HHS N01HC95159NHLBI NIH HHS N01HC95160NHLBI NIH HHS N01HC95161NHLBI NIH HHS N01HC95162NHLBI NIH HHS N01HC95163NHLBI NIH HHS N01HC95164NHLBI NIH HHS N01HC95165NHLBI NIH HHS N01HC95166NHLBI NIH HHS N01HC95167NHLBI NIH HHS N01HC95168NHLBI NIH HHS N01HC95169NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL128914
6 · The paper itself

Abstract

Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading indication for heart transplantation. Many rare genetic variants have been associated with DCM, but common variant studies of the disease have yielded few associated loci. As structural changes in the heart are a defining feature of DCM, we report a genome-wide association study of cardiac magnetic resonance imaging (MRI)-derived left ventricular measurements in 36,041 UK Biobank participants, with replication in 2184 participants from the Multi-Ethnic Study of Atherosclerosis. We identify 45 previously unreported loci associated with cardiac structure and function, many near well-established genes for Mendelian cardiomyopathies. A polygenic score of MRI-derived left ventricular end systolic volume strongly associates with incident DCM in the general population. Even among carriers of TTN truncating mutations, this polygenic score influences the size and function of the human heart. These results further implicate common genetic polymorphisms in the pathogenesis of DCM.

Indexed as

Cardiomyopathy, DilatedGenome-Wide Association StudyHeartHumansMagnetic Resonance ImagingMyocardiumPolymorphism, Single Nucleotide

Identifiers

PMID32382064
PMCPMC7206184

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.