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{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,21]],"date-time":"2024-01-21T16:55:39Z","timestamp":1705856139728},"reference-count":62,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T00:00:00Z","timestamp":1655769600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"crossref","award":["TRR259","SFB958","SE2016\/13-1","SE2016\/17-1","NO246\/17-1","KR3985\/12-1","EXC 2167-390884018","INST 336\/104-1","INST 336\/114-1"]},{"name":"Leicester NIHR Leicester Biomedical Research Centre"},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"crossref"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n <jats:sec>\n <jats:title>Aims<\/jats:title>\n <jats:p>The present study aims to characterize the genetic risk architecture of bicuspid aortic valve (BAV) disease, the most common congenital heart defect.<\/jats:p>\n <\/jats:sec>\n <jats:sec>\n <jats:title>Methods and results<\/jats:title>\n <jats:p>We carried out a genome-wide association study (GWAS) including 2236 BAV patients and 11 604 controls. This led to the identification of a new risk locus for BAV on chromosome 3q29. The single nucleotide polymorphism rs2550262 was genome-wide significant BAV associated (P = 3.49 \u00d7 10\u221208) and was replicated in an independent case\u2013control sample. The risk locus encodes a deleterious missense variant in MUC4 (p.Ala4821Ser), a gene that is involved in epithelial-to-mesenchymal transformation. Mechanistical studies in zebrafish revealed that loss of Muc4 led to a delay in cardiac valvular development suggesting that loss of MUC4 may also play a role in aortic valve malformation. The GWAS also confirmed previously reported BAV risk loci at PALMD (P = 3.97 \u00d7 10\u221216), GATA4 (P = 1.61 \u00d7 10\u221209), and TEX41 (P = 7.68 \u00d7 10\u221204). In addition, the genetic BAV architecture was examined beyond the single-marker level revealing that a substantial fraction of BAV heritability is polygenic and \u223c20% of the observed heritability can be explained by our GWAS data. Furthermore, we used the largest human single-cell atlas for foetal gene expression and show that the transcriptome profile in endothelial cells is a major source contributing to BAV pathology.<\/jats:p>\n <\/jats:sec>\n <jats:sec>\n <jats:title>Conclusion<\/jats:title>\n <jats:p>Our study provides a deeper understanding of the genetic risk architecture of BAV formation on the single marker and polygenic level.<\/jats:p>\n <\/jats:sec>","DOI":"10.1093\/cvr\/cvac099","type":"journal-article","created":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T18:36:55Z","timestamp":1655836615000},"page":"857-866","source":"Crossref","is-referenced-by-count":6,"title":["Elucidation of the genetic causes of bicuspid aortic valve disease"],"prefix":"10.1093","volume":"119","author":[{"given":"Jan","family":"Gehlen","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University of Bonn and University Hospital Bonn , Bonn , Germany"},{"name":"Institute of Human Genetics, 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