Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.
| Title: | 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) |
| Publisher Information: | Public Library of Science (PLoS), 2017. |
| Publication Year: | 2017 |
| Collection: | LCC:Medicine; LCC:Science |
| Subject Terms: | Medicine; Science |
| Description: | 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 1932-6203 |
| Relation: | https://doaj.org/toc/1932-6203 |
| DOI: | 10.1371/journal.pone.0172995 |
| Access URL: | https://doaj.org/article/57cc136b5b6b488385fb35ea7dfd896e |
| Accession Number: | edsdoj.57cc136b5b6b488385fb35ea7dfd896e |
| Database: | Directory of Open Access Journals |