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A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans.

Authors: Xu, Huichun  Dorn Ii, Gerald W  Shetty, Amol  Parihar, Ankita  Dave, Tushar  Robinson, Shawn W  Gottlieb, Stephen S  Donahue, Mark P  Tomaselli, Gordon F  Kraus, William E  Mitchell, Braxton D  Liggett, Stephen B 
Citation: Xu H, etal., J Pers Med. 2018 Feb 26;8(1). pii: jpm8010011. doi: 10.3390/jpm8010011.
Pubmed: (View Article at PubMed) PMID:29495422
DOI: Full-text: DOI:10.3390/jpm8010011

Idiopathic dilated cardiomyopathy (IDC) is the most common form of non-ischemic chronic heart failure. Despite the higher prevalence of IDC in African Americans, the genetics of IDC have been relatively understudied in this ethnic group. We performed a genome-wide association study to identify susceptibility genes for IDC in African Americans recruited from five sites in the U.S. (662 unrelated cases and 1167 controls). The heritability of IDC was calculated to be 33% (95% confidence interval: 19-47%;p= 6.4 × 10-7). We detected association of a variant in a novel intronic locus in theCACNB4gene meeting genome-wide levels of significance (p= 4.1 × 10-8). TheCACNB4gene encodes a calcium channel subunit expressed in the heart that is important for cardiac muscle contraction. This variant has not previously been associated with IDC in any racial group. Pathway analysis, based on the 1000 genes most strongly associated with IDC, showed an enrichment for genes related to calcium signaling, growth factor signaling, neuronal/neuromuscular signaling, and various types of cellular level signaling, including gap junction and cAMP signaling. Our results suggest a novel locus for IDC in African Americans and provide additional insights into the genetic architecture and etiology.


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CRRD Object Information
CRRD ID: 13515053
Created: 2018-03-30
Species: All species
Last Modified: 2018-03-30
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.