FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3133895834> ?p ?o ?g. }

• W3133895834 endingPage "850" @default.
• W3133895834 startingPage "844" @default.
• W3133895834 abstract "Atrial fibrillation (AF) is a complex heritable disease whose genetic underpinnings remain largely unexplained, though recent work has suggested that the arrhythmia may develop secondary to an underlying atrial cardiomyopathy. We sought to evaluate for enrichment of loss-of-function (LOF) and copy number variants (CNVs) in genes implicated in ventricular cardiomyopathy in 'lone' AF.Whole-exome sequencing was performed in 255 early onset 'lone' AF cases, defined as arrhythmia onset prior to 60 years of age in the absence of known clinical risk factors. Subsequent evaluations were restricted to 195 cases of European genetic ancestry, as defined by principal component analysis, and focused on a pre-defined set of 43 genes previously implicated in ventricular cardiomyopathy. Bioinformatic analysis identified 6 LOF variants (3.1%), including 3 within the TTN gene, among cases in comparison with 4 of 503 (0.80%) controls [odds ratio: 3.96; 95% confidence interval (CI): 1.11-14.2; P = 0.033]. Further, two AF cases possessed a novel heterozygous 8521 base pair TTN deletion, confirmed with Sanger sequencing and breakpoint validation, which was absent from 4958 controls (P = 0.0014). Subsequent cascade screening in two families revealed evidence of co-segregation of a LOF variant with 'lone' AF.'Lone' AF cases are enriched in rare LOF variants from cardiomyopathy genes, findings primarily driven by TTN, and a novel TTN deletion, providing additional evidence to implicate atrial cardiomyopathy as an AF genetic sub-phenotype. Our results also highlight that AF may develop in the context of these variants in the absence of a discernable ventricular cardiomyopathy." @default.
• W3133895834 created "2021-03-15" @default.
• W3133895834 creator A5005764816 @default.
• W3133895834 creator A5012672874 @default.
• W3133895834 creator A5013027395 @default.
• W3133895834 creator A5014483843 @default.
• W3133895834 creator A5018992352 @default.
• W3133895834 creator A5027983377 @default.
• W3133895834 creator A5032516712 @default.
• W3133895834 creator A5032645275 @default.
• W3133895834 creator A5032764121 @default.
• W3133895834 creator A5035358062 @default.
• W3133895834 creator A5037795579 @default.
• W3133895834 creator A5044773629 @default.
• W3133895834 creator A5049296994 @default.
• W3133895834 creator A5055263630 @default.
• W3133895834 creator A5067460303 @default.
• W3133895834 creator A5074159618 @default.
• W3133895834 date "2021-03-03" @default.
• W3133895834 modified "2023-10-16" @default.
• W3133895834 title "Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in ‘lone’ atrial fibrillation" @default.
• W3133895834 cites W1887864442 @default.
• W3133895834 cites W1972142091 @default.
• W3133895834 cites W2009404472 @default.
• W3133895834 cites W2051605043 @default.
• W3133895834 cites W2096791516 @default.
• W3133895834 cites W2133128268 @default.
• W3133895834 cites W2237393579 @default.
• W3133895834 cites W2339307237 @default.
• W3133895834 cites W2409041960 @default.
• W3133895834 cites W2531418789 @default.
• W3133895834 cites W2591909999 @default.
• W3133895834 cites W2740775849 @default.
• W3133895834 cites W2782424591 @default.
• W3133895834 cites W2807295499 @default.
• W3133895834 cites W2897624804 @default.
• W3133895834 cites W2903835113 @default.
• W3133895834 cites W3003130796 @default.
• W3133895834 cites W3008549006 @default.
• W3133895834 cites W3009358031 @default.
• W3133895834 cites W3023891555 @default.
• W3133895834 cites W4232277679 @default.
• W3133895834 doi "https://doi.org/10.1093/europace/euaa421" @default.
• W3133895834 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8184224" @default.
• W3133895834 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33682005" @default.
• W3133895834 hasPublicationYear "2021" @default.
• W3133895834 type Work @default.
• W3133895834 sameAs 3133895834 @default.
• W3133895834 citedByCount "12" @default.
• W3133895834 countsByYear W31338958342021 @default.
• W3133895834 countsByYear W31338958342022 @default.
• W3133895834 countsByYear W31338958342023 @default.
• W3133895834 crossrefType "journal-article" @default.
• W3133895834 hasAuthorship W3133895834A5005764816 @default.
• W3133895834 hasAuthorship W3133895834A5012672874 @default.
• W3133895834 hasAuthorship W3133895834A5013027395 @default.
• W3133895834 hasAuthorship W3133895834A5014483843 @default.
• W3133895834 hasAuthorship W3133895834A5018992352 @default.
• W3133895834 hasAuthorship W3133895834A5027983377 @default.
• W3133895834 hasAuthorship W3133895834A5032516712 @default.
• W3133895834 hasAuthorship W3133895834A5032645275 @default.
• W3133895834 hasAuthorship W3133895834A5032764121 @default.
• W3133895834 hasAuthorship W3133895834A5035358062 @default.
• W3133895834 hasAuthorship W3133895834A5037795579 @default.
• W3133895834 hasAuthorship W3133895834A5044773629 @default.
• W3133895834 hasAuthorship W3133895834A5049296994 @default.
• W3133895834 hasAuthorship W3133895834A5055263630 @default.
• W3133895834 hasAuthorship W3133895834A5067460303 @default.
• W3133895834 hasAuthorship W3133895834A5074159618 @default.
• W3133895834 hasBestOaLocation W31338958341 @default.
• W3133895834 hasConcept C104317684 @default.
• W3133895834 hasConcept C10590036 @default.
• W3133895834 hasConcept C120821319 @default.
• W3133895834 hasConcept C126322002 @default.
• W3133895834 hasConcept C127716648 @default.
• W3133895834 hasConcept C141231307 @default.
• W3133895834 hasConcept C151730666 @default.
• W3133895834 hasConcept C156957248 @default.
• W3133895834 hasConcept C164705383 @default.
• W3133895834 hasConcept C16671776 @default.
• W3133895834 hasConcept C2778198053 @default.
• W3133895834 hasConcept C2778797674 @default.
• W3133895834 hasConcept C2779161974 @default.
• W3133895834 hasConcept C2779343474 @default.
• W3133895834 hasConcept C501734568 @default.
• W3133895834 hasConcept C54355233 @default.
• W3133895834 hasConcept C69991583 @default.
• W3133895834 hasConcept C71924100 @default.
• W3133895834 hasConcept C76818968 @default.
• W3133895834 hasConcept C86803240 @default.
• W3133895834 hasConceptScore W3133895834C104317684 @default.
• W3133895834 hasConceptScore W3133895834C10590036 @default.
• W3133895834 hasConceptScore W3133895834C120821319 @default.
• W3133895834 hasConceptScore W3133895834C126322002 @default.
• W3133895834 hasConceptScore W3133895834C127716648 @default.
• W3133895834 hasConceptScore W3133895834C141231307 @default.
• W3133895834 hasConceptScore W3133895834C151730666 @default.
• W3133895834 hasConceptScore W3133895834C156957248 @default.

• next