Analysis of cardiac magnetic resonance imaging traits in 29,000 individuals reveals shared genetic basis with dilated cardiomyopathy
Pirruccello, J.; Bick, A.; Wang, M.; Chaffin, M.; Lubitz, S. A.; Ellinor, P. T.; Khera, A. V.; Kathiresan, S.; Aragam, K. G.
Show abstract
Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading indication for heart transplantation. Many rare genetic variants have been associated with DCM, but common variant studies of the disease have yielded few associated loci. As structural changes in the heart are a defining feature of DCM, we conducted a genome-wide association study (GWAS) of cardiac magnetic resonance imaging (MRI)-derived left ventricular measurements in 29,041 UK Biobank participants. 26 novel loci were associated with cardiac structure and function. These loci were found near 17 genes previously shown to cause Mendelian cardiomyopathies. A polygenic score of left ventricular end systolic volume was associated with incident DCM in previously disease-free individuals (hazard ratio = 1.54 per one standard deviation increase in the polygenic score, P = 2.1x10-16). Even among carriers of truncating mutations in TTN, the polygenic score influenced the size and function of the heart. These results further implicate common genetic polymorphisms in DCM pathogenesis.
Matching journals
The top 4 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy 98%
- Evaluation of polygenic score for hypertrophic cardiomyopathy in the general population and across clinical settings 98%
- Genetic Analysis of Right Heart Structure and Function in 40,000 People 98%
Similar papers in this journal
Similar papers in this journal
- Deep Learning of Left Atrial Structure and Function Provides Link to Atrial Fibrillation Risk 97%
- Genome-wide association analysis and Mendelian randomization proteomics identify novel protein biomarkers and drug targets for primary prevention of heart failure 97%
- Genome-Wide Associations Of Aortic Distensibility Suggest Causal Relationships With Aortic Aneurysms And Brain White Matter Hyperintensities 95%
Similar papers in this journal
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.