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Meder, B.* ; Rühle, F.* ; Weis, T.* ; Homuth, G.* ; Keller, A.* ; Franke, J.* ; Peil, B.* ; Lorenzo Bermejo, J.* ; Frese, K.* ; Huge, A.* ; Witten, A.* ; Vogel, B.* ; Haas, J.* ; Völker, U.* ; Ernst, F.* ; Teumer, A.* ; Ehlermann, P.* ; Zugck, C.* ; Friedrichs, F.* ; Kroemer, H.* ; Dörr, M.* ; Hoffmann, W.* ; Maisch, B.* ; Pankuweit, S.* ; Ruppert, V.* ; Scheffold, T.* ; Kühl, U.* ; Schultheiss, H.P.* ; Kreutz, R.* ; Ertl, G.* ; Angermann, C.* ; Charron, P.* ; Villard, E.* ; Gary, F.* ; Isnard, R.* ; Komajda, M.* ; Lutz, M.* ; Meitinger, T. ; Sinner, M.F.* ; Wichmann, H.-E. ; Krawczak, M.* ; Ivandic, B.* ; Weichenhan, D.* ; Gelbrich, G.* ; El-Mokhtari, N.E.* ; Schreiber, S.* ; Felix, S.B.* ; Hasenfuß, G.* ; Pfeufer, A. ; Hubner, N.* ; Kääb, S.* ; Arbustini, E.* ; Rottbauer, W.* ; Frey, N.* ; Stoll, M.* ; Katus, H.A.*

A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.

Eur. Heart J. 35, 1069-1077 (2014)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
AIMS: Dilated cardiomyopathy (DCM) is one of the leading causes for cardiac transplantations and accounts for up to one-third of all heart failure cases. Since extrinsic and monogenic causes explain only a fraction of all cases, common genetic variants are suspected to contribute to the pathogenesis of DCM, its age of onset, and clinical progression. By a large-scale case-control genome-wide association study we aimed here to identify novel genetic risk loci for DCM. METHODS AND RESULTS: Applying a three-staged study design, we analysed more than 4100 DCM cases and 7600 controls. We identified and successfully replicated multiple single nucleotide polymorphism on chromosome 6p21. In the combined analysis, the most significant association signal was obtained for rs9262636 (P = 4.90 × 10-9) located in HCG22, which could again be replicated in an independent cohort. Taking advantage of expression quantitative trait loci (eQTL) as molecular phenotypes, we identified rs9262636 as an eQTL for several closely located genes encoding class I and class II major histocompatibility complex heavy chain receptors. CONCLUSION: The present study reveals a novel genetic susceptibility locus that clearly underlines the role of genetically driven, inflammatory processes in the pathogenesis of idiopathic DCM.  
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords DCM; Dilated cardiomyopathy; Genome-wide association study; Coronary-artery-disease; Heart-failure; Hla-c; Susceptibility Loci; Myocarditis; Cardiology; Variants; Society; Health; Gene
ISSN (print) / ISBN 0195-668X
e-ISSN 1522-9645
Journal European Heart Journal
Quellenangaben Volume: 35, Issue: 16, Pages: 1069-1077 Article Number: , Supplement: ,
Publisher Oxford University Press
Publishing Place Oxford
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
Institute of Bioinformatics and Systems Biology (IBIS)