The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here:

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Default user image.

Gustav Smith

Associate professor

Default user image.

Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function


  • Philipp S. Wild
  • Janine F. Felix
  • Arne Schillert
  • Alexander Teumer
  • Ming-Huei Chen
  • Maarten J.G. Leening
  • Uwe Völker
  • Vera Großmann
  • Jennifer A Brody
  • Marguerite R. Irvin
  • Sanjiv J. Shah
  • Setia Pramana
  • Wolfgang Lieb
  • Reinhold Schmidt
  • Alice V Stanton
  • Dörthe Malzahn
  • Albert Vernon Smith
  • Johan Sundström
  • Cosetta Minelli
  • Daniela Ruggiero
  • Leo-Pekka Lyytikäinen
  • Daniel Tiller
  • Gustav Smith
  • Claire Monnereau
  • Marco R. Di Tullio
  • Solomon K Musani
  • Alanna C Morrison
  • Tune H. Pers
  • Michael Morley
  • Marcus E Kleber
  • Jayashri Aragam
  • Emelia J Benjamin
  • Joshua C Bis
  • Egbert Bisping
  • Ulrich Broeckel
  • Susan Cheng
  • Jaap W Deckers
  • Fabiola Del Greco M
  • Frank Edelmann
  • Myriam Fornage
  • Lude Franke
  • Nele Friedrich
  • Tamara B Harris
  • Edith Hofer
  • Albert Hofman
  • Jie Huang
  • Alun D. Hughes
  • Mika Kähönen
  • Jochen Kruppa
  • Karl J. Lackner
  • Lars Lannfelt
  • Rafael Laskowski
  • Lenore J Launer
  • Margrét Leosdottir
  • Honghuang Lin
  • Cecilia M. Lindgren
  • Christina Loley
  • Calum A. MacRae
  • Deborah Mascalzoni
  • Jamil Mayet
  • Daniel Medenwald
  • Andrew P Morris
  • Christian Müller
  • Martina Müller-Nurasyid
  • Stefania Nappo
  • Peter M. Nilsson
  • Sebastian Nuding
  • Teresa Nutile
  • Annette Peters
  • Arne Pfeufer
  • Diana Pietzner
  • Peter P Pramstaller
  • Olli T Raitakari
  • Kenneth M Rice
  • Fernando Rivadeneira
  • Jerome I. Rotter
  • Saku T. Ruohonen
  • Ralph L. Sacco
  • Tandaw E. Samdarshi
  • Helena Schmidt
  • Andrew S.P. Sharp
  • Denis C. Shields
  • Rossella Sorice
  • Nona Sotoodehnia
  • Bruno H Stricker
  • Praveen Surendran
  • Simon Thom
  • Anna M. Töglhofer
  • André G Uitterlinden
  • Rolf Wachter
  • Henry Völzke
  • Andreas Ziegler
  • Thomas Münzel
  • Winfried März
  • Thomas P Cappola
  • Joel N. Hirschhorn
  • Gary F. Mitchell
  • Nicholas L Smith
  • Ervin R Fox
  • Nicole D. Dueker
  • Vincent W. V. Jaddoe
  • Olle Melander
  • Martin Russ
  • Terho Lehtimäki
  • Marina Ciullo
  • Andrew A Hicks
  • Lars Lind
  • Vilmundur Gudnason
  • Burkert Pieske
  • Anthony J. Barron
  • Robert Zweiker
  • Heribert Schunkert
  • Erik Ingelsson
  • Kiang Liu
  • Donna K. Arnett
  • Bruce M. Psaty
  • Stefan Blankenberg
  • Martin G. Larson
  • Stephan B Felix
  • Oscar H. Franco
  • Tanja Zeller
  • Ramachandran S. Vasan
  • Marcus Dörr

Summary, in English

BACKGROUND. Understanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual variability in cardiac structure and function. METHODS. A GWAS meta-analysis of echocardiographic traits was performed, including 46,533 individuals from 30 studies (EchoGen consortium). The analysis included 16 traits of left ventricular (LV) structure, and systolic and diastolic function. RESULTS. The discovery analysis included 21 cohorts for structural and systolic function traits (n = 32,212) and 17 cohorts for diastolic function traits (n = 21,852). Replication was performed in 5 cohorts (n = 14,321) and 6 cohorts (n = 16,308), respectively. Besides 5 previously reported loci, the combined meta-analysis identified 10 additional genome-wide significant SNPs: rs12541595 near MTSS1 and rs10774625 in ATXN2 for LV end-diastolic internal dimension; rs806322 near KCNRG, rs4765663 in CACNA1C, rs6702619 near PALMD, rs7127129 in TMEM16A, rs11207426 near FGGY, rs17608766 in GOSR2, and rs17696696 in CFDP1 for aortic root diameter; and rs12440869 in IQCH for Doppler transmitral A-wave peak velocity. Findings were in part validated in other cohorts and in GWAS of related disease traits. The genetic loci showed associations with putative signaling pathways, and with gene expression in whole blood, monocytes, and myocardial tissue. CONCLUSION. The additional genetic loci identified in this large meta-analysis of cardiac structure and function provide insights into the underlying genetic architecture of cardiac structure and warrant follow-up in future functional studies.


  • Cardiology
  • Cardiovascular Epigenetics
  • Molecular Epidemiology and Cardiology
  • Heart Failure and Mechanical Support
  • Internal Medicine - Epidemiology
  • Cardiovascular Research - Hypertension
  • EXODIAB: Excellence of Diabetes Research in Sweden
  • EpiHealth: Epidemiology for Health

Publishing year







Journal of Clinical Investigation





Document type

Journal article


The American Society for Clinical Investigation


  • Medical Genetics



Research group

  • Cardiovascular Epigenetics
  • Molecular Epidemiology and Cardiology
  • Heart Failure and Mechanical Support
  • Internal Medicine - Epidemiology
  • Cardiovascular Research - Hypertension


  • ISSN: 0021-9738