No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Edgar T HoorntjeAnna PosafalviPetros Syrris K Joeri Van der VeldeMarieke C BollingAlexandros ProtonotariosLudolf G BovenNuria Amat-CodinaJudith A GroenewegArthur A WildeNara SobreiraHugh CalkinsRichard N W HauerMarcel F JonkmanWilliam J McKennaPerry Mark Elliott Richard J SinkeMaarten P van den BergStephen P ChelkoCynthia A JamesJ Peter van TintelenDaniel P JudgeJan D H Jongbloed

Published in: PloS one (2018)

Although PLEC has been hypothesized as a promising candidate gene for ARVC, our current study did not show an enrichment of rare PLEC variants in ARVC patients compared to controls and therefore does not support a major role for PLEC in this disorder. Although rare PLEC variants were associated with abnormal localization in cardiac tissue, the confluence of data does not support a role for plectin abnormalities in ARVC development.

Keyphrases

copy number
end stage renal disease
heart failure
newly diagnosed
chronic kidney disease
prognostic factors
left ventricular
peritoneal dialysis
gene expression
dna methylation