Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy
Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM. 116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM p...
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| Published in | PloS one Vol. 12; no. 3; p. e0172995 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Public Library of Science
15.03.2017
Public Library of Science (PLoS) |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1932-6203 1932-6203 |
| DOI | 10.1371/journal.pone.0172995 |
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| Abstract | Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM.
116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01). The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01) demonstrated significant association for TTN variants only (P = 0.0085). All candidate genes but one (SLC39A8) exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033) or common (n = 36, P = 0.019) variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.
We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology. |
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| AbstractList | Aims
Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM.
Methods and results
116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01). The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01) demonstrated significant association for TTN variants only (P = 0.0085). All candidate genes but one (SLC39A8) exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033) or common (n = 36, P = 0.019) variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.
Conclusion
We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology. Aims: Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM.Methods and results: 116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01). The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01) demonstrated significant association for TTN variants only (P = 0.0085). All candidate genes but one (SLC39A8) exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033) or common (n = 36, P = 0.019) variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.Conclusion: We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology. AimsDilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM.Methods and results116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01). The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01) demonstrated significant association for TTN variants only (P = 0.0085). All candidate genes but one (SLC39A8) exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033) or common (n = 36, P = 0.019) variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.ConclusionWe identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology. Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM. 116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01). The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01) demonstrated significant association for TTN variants only (P = 0.0085). All candidate genes but one (SLC39A8) exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033) or common (n = 36, P = 0.019) variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here. We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology. Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM. 116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01). The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01) demonstrated significant association for TTN variants only (P = 0.0085). All candidate genes but one (SLC39A8) exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033) or common (n = 36, P = 0.019) variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here. We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology. |
| Audience | Academic |
| Author | Charron, Philippe Proust, Carole Perret, Claire Prasad, Sanjay K. Lacolley, Patrick Korniat, Agathe Empana, Jean-Philippe Villard, Eric Jouven, Xavier Hakonarson, Hakon Bick, Alexander G. Cambien, François Isnard, Richard Morley, Michael P. Boutouyrie, Pierre Kriebel, Jennifer Hengstenberg, Christian Regitz-Zagrosek, Vera Garnier, Sophie Grallert, Harald Seidman, Jonathan G. Cappola, Thomas P. Müller-Nurasyid, Martina Esslinger, Ulrike O'Regan, Declan P. Stark, Klaus Cook, Stuart A. Marguiles, Kenneth B. Seidman, Christine E. Komajda, Michel Kararigas, Georgios Tiret, Laurence Arbustini, Eloisa Li, Jin Strauch, Konstantin |
| AuthorAffiliation | 8 Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France 19 Howard Hughes Medical Institute, Chevy Chase, MD, United States of America 11 Department of Medecine and Genetics Harvard Medical School, Boston, MA, United States of America 14 Institute of Epidemiology II, Helmholtz Zentrum München—German Research Center for Environmental Health, Neuherberg, Germany 4 Institute of Genetic Epidemiology, Helmholtz Zentrum München—German Research Center for Environmental Health, Neuherberg, Germany 1 Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR-S1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris, France 25 AP-HP, Hôpital Pitié-Salpêtrière, Centre de Référence des Maladies Cardiaques Héréditaires, Paris, France 6 DZHK (German Centre for Cardiovascular Research), Partnersite Munich Heart Alliance, Munich, Germany 10 Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany 12 Royal Brompton Hospital, London, United Kingdom 21 |
| AuthorAffiliation_xml | – name: 3 Institute of Gender in Medicine and Center for Cardiovascular Research, Charite University Hospital, and DZHK, Berlin, Germany – name: 10 Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany – name: 13 Research Unit of Molecular Epidemiology, Helmholtz Zentrum München—German Research Center for Environmental Health, Neuherberg, Germany – name: 21 INSERM U1116, Université de Lorraine, Nancy, France – name: 18 Medical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, United Kingdom – name: 20 AP-HP, Georges Pompidou European Hospital, Pharmacology Department, Paris, France – name: 17 Institute of Medical Informatics, Biometry and Epidemiology, Chair of Genetic Epidemiology, Ludwig-Maximilians-Universität, Munich, Germany – name: 4 Institute of Genetic Epidemiology, Helmholtz Zentrum München—German Research Center for Environmental Health, Neuherberg, Germany – name: 22 AP-HP, Georges Pompidou European Hospital, Cardiology Department, Paris, France – name: 24 AP-HP, Pitié-Salpêtrière Hospital, Cardiology Department, Paris, France – name: 23 Deutsches Herzzentrum München, Technische Universität München, Munich, Germany – name: 6 DZHK (German Centre for Cardiovascular Research), Partnersite Munich Heart Alliance, Munich, Germany – name: 8 Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France – name: 25 AP-HP, Hôpital Pitié-Salpêtrière, Centre de Référence des Maladies Cardiaques Héréditaires, Paris, France – name: 16 Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America – name: 7 INSERM, UMR-S970, Department of Epidemiology, Paris, France – name: 26 IRCCS Fondazione Policlinico San Matteo, Pavia, Italy – name: 29 Duke-NUS, Singapore – name: 28 National Heart and Lung Institute, Imperial College London, London, United Kingdom – name: 15 German Center for Diabetes Research, Neuherberg, Germany – name: 1 Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR-S1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris, France – name: 14 Institute of Epidemiology II, Helmholtz Zentrum München—German Research Center for Environmental Health, Neuherberg, Germany – name: 30 Université de Versailles-Saint Quentin, AP-HP, Hôpital Ambroise Paré, Boulogne-Billancourt, France – name: 2 ICAN Institute for Cardiometabolism and Nutrition, Paris, France – name: 19 Howard Hughes Medical Institute, Chevy Chase, MD, United States of America – name: Ohio State University Wexner Medical Center, UNITED STATES – name: 11 Department of Medecine and Genetics Harvard Medical School, Boston, MA, United States of America – name: 5 Department of Medicine I, Ludwig-Maximilians-University Munich, Munich, Germany – name: 12 Royal Brompton Hospital, London, United Kingdom – name: 27 National Heart Centre Singapore, Singapore – name: 9 Penn Cardiovascular Institute and Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28296976$$D View this record in MEDLINE/PubMed https://hal.univ-lorraine.fr/hal-03571195$$DView record in HAL |
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| ContentType | Journal Article |
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| Copyright_xml | – notice: COPYRIGHT 2017 Public Library of Science – notice: This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication: https://creativecommons.org/publicdomain/zero/1.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. – notice: Distributed under a Creative Commons Attribution 4.0 International License |
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| DOI | 10.1371/journal.pone.0172995 |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 PMCID: PMC5351854 Conceptualization: FC UE PC EV.Formal analysis: AB FC SG JL MMN JS.Funding acquisition: EA FC PC SC GK PL VRZ CS EV.Investigation: PB TC PC SC JPE UE SG HH HG CH RI XJ GK MK AK JK KM MM MMN DO C Proust SP C Perret JS K Stark K Strauch.Resources: EA PB TC PC SC HH CH RI XJ MK PL KM.Supervision: EA FC PC SC CH GK PL VRZ JS CS EV.Writing – original draft: FC UE AK LT EV.Writing – review & editing: EA AB TC PC JPE SG HG CH XJ GK MK JK PL KM MMN VRZ CS K Strauch. Competing Interests: The authors have declared that no competing interests exist. |
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| Snippet | Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study... Aims Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association... Aims: Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association... AimsDilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association... Aims Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association... |
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| SubjectTerms | Autophagy Biology and Life Sciences Cardiology Cardiomyopathy Cardiomyopathy, Dilated - genetics Cardiovascular disease Complications and side effects Congestive cardiomyopathy Diabetes Dilated cardiomyopathy Environmental health Epidemiology Exome Gene expression Gene mapping Genes Genetic aspects Genetic Predisposition to Disease Genetics Genomics Heart Heart diseases Heart failure Hospitals Humans Kinases Lead Life Sciences Loci Medicine Medicine and Health Sciences Muscles Mutation Mutation, Missense Nutrition Polymorphism, Single Nucleotide Research and Analysis Methods Risk factors Single nucleotide polymorphisms Skeletal muscle Tissues |
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| Title | Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/28296976 https://www.proquest.com/docview/1877791577 https://www.proquest.com/docview/1881759622 https://hal.univ-lorraine.fr/hal-03571195 https://pubmed.ncbi.nlm.nih.gov/PMC5351854 https://doaj.org/article/57cc136b5b6b488385fb35ea7dfd896e http://dx.doi.org/10.1371/journal.pone.0172995 |
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