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

Authors :
Ulrike Esslinger
Sophie Garnier
Agathe Korniat
Carole Proust
Georgios Kararigas
Martina Müller-Nurasyid
Jean-Philippe Empana
Michael P Morley
Claire Perret
Klaus Stark
Alexander G Bick
Sanjay K Prasad
Jennifer Kriebel
Jin Li
Laurence Tiret
Konstantin Strauch
Declan P O'Regan
Kenneth B Marguiles
Jonathan G Seidman
Pierre Boutouyrie
Patrick Lacolley
Xavier Jouven
Christian Hengstenberg
Michel Komajda
Hakon Hakonarson
Richard Isnard
Eloisa Arbustini
Harald Grallert
Stuart A Cook
Christine E Seidman
Vera Regitz-Zagrosek
Thomas P Cappola
Philippe Charron
François Cambien
Eric Villard
Source :
PLoS ONE, Vol 12, Iss 3, p e0172995 (2017)
Publication Year :
2017
Publisher :
Public Library of Science (PLoS), 2017.

Abstract

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-valueConclusionWe 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.

Subjects

Subjects :
Medicine
Science

Details

Language :
English
ISSN :
19326203
Volume :
12
Issue :
3
Database :
Directory of Open Access Journals
Journal :
PLoS ONE
Publication Type :
Academic Journal
Accession number :
edsdoj.57cc136b5b6b488385fb35ea7dfd896e
Document Type :
article
Full Text :
https://doi.org/10.1371/journal.pone.0172995