Functional genomics and epigenomics of atrial fibrillation

Abstract

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Investigating genes associated with cardiovascular disease among heart failure patients for translational research and precision medicine

“…Our results highlight the importance of investigating the mechanisms of CVD progression through multi‐omics datasets 180 . They also provide strong evidence that applying an integrative data analysis approach involving genomics and transcriptomics data can not only help understand the pathophysiology of CVD diseases but also reduce heterogeneity in disease subtypes 181–183 …”

“…180 They also provide strong evidence that applying an integrative data analysis approach involving genomics and transcriptomics data can not only help understand the pathophysiology of CVD diseases but also reduce heterogeneity in disease subtypes. [181][182][183] We are also interested in elucidating how changes in gene expression regulation through alternative splicing contribute to CVD. Alternative splicing is a key control point in gene expression, and its misregulation often leads to malignancy.…”

PRRX1 Loss‐of‐Function Mutations Underlying Familial Atrial Fibrillation

“… 38 To date, via genome‐wide linkage analysis and association study, >160 chromosomal loci have been linked causally to AF, although for the vast majority of these genetic loci, the biological implications remain unclear. 21 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 Moreover, in addition to chromosomal abnormalities (duplications/deletions), pathogenic mutations in >50 genes have been implicated with AF, of which most encode ion channels, gap junction channels, transcriptional factors, sarcomere proteins, and signaling molecules. 21 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 ...…”

“…21 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 Moreover, in addition to chromosomal abnormalities (duplications/deletions), pathogenic mutations in >50 genes have been implicated with AF, of which most encode ion channels, gap junction channels, transcriptional factors, sarcomere proteins, and signaling molecules. 21 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 Of note, loss‐of‐function mutations in TTN and MYL4 also cause AF. 42 , 63 Nevertheless, these already well‐established ge...…”

“… 42 , 63 Nevertheless, these already well‐established genetic defects only account for a minority of AF, because of pronounced genetic heterogeneity of AF. 21 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 Therefore, further research studies are warranted to better understand the complex genetic basis of AF.…”