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Titel:

Elucidation of the genetic causes of bicuspid aortic valve disease.

Dokumenttyp:
Article; Journal Article
Autor(en):
Gehlen, Jan; Stundl, Anja; Debiec, Radoslaw; Fontana, Federica; Krane, Markus; Sharipova, Dinara; Nelson, Christopher P; Al-Kassou, Baravan; Giel, Ann Sophie; Sinning, Jan Malte; Bruenger, Christopher Mh; Zelck, Carolin F; Koebbe, Laura L; Braund, Peter S; Webb, Thomas R; Hetherington, Simon; Ensminger, Stephan; Fujita, Buntaro; Mohamed, Salah A; Shrestha, Malakh; Krueger, Heike; Siepe, Matthias; Kari, Fabian Alexander; Nordbeck, Peter; Buravezky, Larissa; Kelm, Malte; Veulemans, Verena; Adam, M...     »
Abstract:
AIMS: The present study aims to characterize the genetic risk architecture of bicuspid aortic valve (BAV) disease, the most common congenital heart defect. METHODS AND RESULTS: 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 × 10-08) and was replicated in an independe...     »
Zeitschriftentitel:
Cardiovasc Res
Jahr:
2023
Band / Volume:
119
Heft / Issue:
3
Seitenangaben Beitrag:
857-866
Volltext / DOI:
doi:10.1093/cvr/cvac099
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35727948
Print-ISSN:
0008-6363
TUM Einrichtung:
1038; 1121; 1310; 678; Klinik für Herz- und Gefäßchirurgie (DHM) (Prof. Krane); Klinik für Herz- und Kreislauferkrankungen im Erwachsenenalter (DHM) (Prof. Schunkert); Klinik und Poliklinik für Innere Medizin I, Kardiologie (Prof. Laugwitz)
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