{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Foco L"],"funding":["Joint Project Alto Adige-SNSF (Italy-Switzerland)","Joint Project Alto Adige-SNSF","Autonomous Province of Bolzano/Bozen - South Tyrol - Department of Innovation, Research, University and Museums","Ministry of Health of the Autonomous Province of Bolzano and the South Tyrolean Sparkasse Foundation","European Regional Development Fund"],"pagination":["843-860"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12449342"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["144(8)"],"pubmed_abstract":["Cardiac desmosomes are specialized cell junctions responsible for cardiomyocytes mechanical coupling. Mutation in desmosomal genes cause autosomal dominant and recessive familial arrhythmogenic cardiomyopathy. Motivated by evidence that Mendelian diseases share genetic architecture with common complex traits, we assessed whether common variants in any desmosomal gene were associated with cardiac conduction traits in the general population. We analysed data of N = 4342 Cooperative Health Research in South Tyrol (CHRIS) study participants. We tested associations between genotype imputed variants covering the five desmosomal genes Desmoplakin (DSP), junction plakoglobin (JUP), plakophilin 2 (PKP2), desmoglein 2 (DSG2), and desmocollin 2 (DSC2), and P-wave, PR, QRS, and QT electrocardiographic"],"journal":["Human genetics"],"pubmed_title":["Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression."],"pmcid":["PMC12449342"],"funding_grant_id":["FESR1157","10.003.119"],"pubmed_authors":["Gogele M","Volani C","Motta BM","Winkelmann J","Dorr M","Waldenberger M","Delerue T","De Bortoli M","Frommelt LS","Volker U","Fuchsberger C","Huan T","Pattaro C","Levy D","Riekschnitz DA","Pramstaller PP","Teumer A","Del Greco M F","Rossini A","Foco L"],"additional_accession":[]},"is_claimable":false,"name":"Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression.","description":"Cardiac desmosomes are specialized cell junctions responsible for cardiomyocytes mechanical coupling. Mutation in desmosomal genes cause autosomal dominant and recessive familial arrhythmogenic cardiomyopathy. Motivated by evidence that Mendelian diseases share genetic architecture with common complex traits, we assessed whether common variants in any desmosomal gene were associated with cardiac conduction traits in the general population. We analysed data of N = 4342 Cooperative Health Research in South Tyrol (CHRIS) study participants. We tested associations between genotype imputed variants covering the five desmosomal genes Desmoplakin (DSP), junction plakoglobin (JUP), plakophilin 2 (PKP2), desmoglein 2 (DSG2), and desmocollin 2 (DSC2), and P-wave, PR, QRS, and QT electrocardiographic","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-06-03T15:40:27.647Z","creation":"2026-04-29T03:12:42.781Z"},"accession":"S-EPMC12449342","cross_references":{"pubmed":["40736537"],"doi":["10.1007/s00439-025-02761-x"]}}