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Toland, Amanda Ewart ; Esslinger, Ulrike ; Garnier, Sophie ; Korniat, Agathe ; Proust, Carole ; Kararigas, Georgios ; Müller-Nurasyid, Martina ; Empana, Jean-Philippe ; Morley, Michael P. ; Perret, Claire ; Stark, Klaus ; Bick, Alexander G. ; Prasad, Sanjay K. ; Kriebel, Jennifer ; Li, Jin ; Tiret, Laurence ; Strauch, Konstantin ; O'Regan, Declan P. ; Marguiles, Kenneth B. ; Seidman, Jonathan G. ; Boutouyrie, Pierre ; Lacolley, Patrick ; Jouven, Xavier ; Hengstenberg, Christian ; Komajda, Michel ; Hakonarson, Hakon ; Isnard, Richard ; Arbustini, Eloisa ; Grallert, Harald ; Cook, Stuart A. ; Seidman, Christine E. ; Regitz-Zagrosek, Vera ; Cappola, Thomas P. ; Charron, Philippe ; Cambien, François ; Villard, Eric

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

Toland, Amanda Ewart, Esslinger, Ulrike , Garnier, Sophie, Korniat, Agathe, Proust, Carole , Kararigas, Georgios, Müller-Nurasyid, Martina, Empana, Jean-Philippe, Morley, Michael P., Perret, Claire, Stark, Klaus, Bick, Alexander G., Prasad, Sanjay K. , Kriebel, Jennifer, Li, Jin, Tiret, Laurence, Strauch, Konstantin , O'Regan, Declan P., Marguiles, Kenneth B., Seidman, Jonathan G. , Boutouyrie, Pierre, Lacolley, Patrick, Jouven, Xavier, Hengstenberg, Christian, Komajda, Michel, Hakonarson, Hakon , Isnard, Richard, Arbustini, Eloisa, Grallert, Harald, Cook, Stuart A., Seidman, Christine E., Regitz-Zagrosek, Vera, Cappola, Thomas P. , Charron, Philippe, Cambien, François und Villard, Eric (2017) Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLOS ONE 12 (3), e0172995.

Veröffentlichungsdatum dieses Volltextes: 20 Mrz 2019 12:45
Artikel
DOI zum Zitieren dieses Dokuments: 10.5283/epub.38604


Zusammenfassung

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. ...

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.



Beteiligte Einrichtungen


Details

DokumentenartArtikel
Titel eines Journals oder einer ZeitschriftPLOS ONE
Verlag:PLOS
Ort der Veröffentlichung:SAN FRANCISCO
Band:12
Nummer des Zeitschriftenheftes oder des Kapitels:3
Seitenbereich:e0172995
Datum2017
InstitutionenMedizin > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie
Identifikationsnummer
WertTyp
10.1371/journal.pone.0172995DOI
Stichwörter / KeywordsSKELETAL-MUSCLES; COMMON VARIANTS; HEART-FAILURE; P19CL6 CELLS; PROTEIN; MUTATIONS; HSPB7; FHOD3; DIFFERENTIATION; ARCHITECTURE;
Dewey-Dezimal-Klassifikation600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin
StatusVeröffentlicht
BegutachtetJa, diese Version wurde begutachtet
An der Universität Regensburg entstandenJa
URN der UB Regensburgurn:nbn:de:bvb:355-epub-386043
Dokumenten-ID38604

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