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Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function
Prevent Cardiol & Prevent Med, Dept Med 2, Beijing, Peoples R China.;Johannes Gutenberg Univ Mainz, Univ Med Ctr, Ctr Thrombosis & Hemostasis, Mainz, Germany.;DZHK German Ctr Cardiovasc Res Partner Site Rhine, Mainz, Germany.;Johannes Gutenberg Univ Mainz, Univ Med Ctr, Ctr Cardiol, Langen beckstr 1, D-55131 Mainz, Germany.;Johannes Gutenberg Univ Mainz, Univ Med Ctr, Ctr Thrombosis & Hemostasis, Langen beckstr 1, D-55131 Mainz, Germany..
Univ Med Ctr Rotterdam, Dept Epidemiol, Erasmus MC, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Dept Epidemiol, Erasmus MC, Room Na 2906,POB 2040, NL-3000 CA Rotterdam, Netherlands..
Univ Lubeck, Univ Med Ctr Schleswig Holstein, Inst Med Biometry & Stat, Lubeck, Germany.;DZHK Partner Site Hamburg Kiel Lubeck, Hamburg, Germany..
Univ Med Greifswald, Inst Community Med, Greifswald, Germany.;DZHK Partner Site Greifswald, Greifswald, Germany..
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2017 (English)In: Journal of Clinical Investigation, ISSN 0021-9738, E-ISSN 1558-8238, Vol. 127, no 5, 1798-1812 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
AMER SOC CLINICAL INVESTIGATION INC , 2017. Vol. 127, no 5, 1798-1812 p.
National Category
Cardiac and Cardiovascular Systems
Identifiers
URN: urn:nbn:se:uu:diva-322693DOI: 10.1172/JCI84840ISI: 000400381000022PubMedID: 28394258OAI: oai:DiVA.org:uu-322693DiVA: diva2:1099108
Available from: 2017-05-29 Created: 2017-05-29 Last updated: 2017-05-29Bibliographically approved

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Sundström, JohanLind, LarsIngelsson, Erik
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