Article
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Circulation research - 21 Jan 2022
Škorić-Milosavljević Doris, Tadros Rafik, Bosada Fernanda M, Tessadori Federico, van Weerd Jan Hendrik, Woudstra Odilia I, Tjong Fleur V Y, Lahrouchi Najim, Bajolle Fanny, Cordell Heather J, Agopian A J, Blue Gillian M, Barge-Schaapveld Daniela Q C M, Gewillig Marc, Preuss Christoph, Lodder Elisabeth M, Barnett Phil, Ilgun Aho, Beekman Leander, van Duijvenboden Karel, Bokenkamp Regina, Müller-Nurasyid Martina, Vliegen Hubert W, Konings Thelma C, van Melle Joost P, van Dijk Arie P J, van Kimmenade Roland R J, Roos-Hesselink Jolien W, Sieswerda Gertjan T, Meijboom Folkert, Abdul-Khaliq Hashim, Berger Felix, Dittrich Sven, Hitz Marc-Phillip, Moosmann Julia, Riede Frank-Thomas, Schubert Stephan, Galan Pilar, Lathrop Mark, Munter Hans M, Al-Chalabi Ammar, Shaw Christopher E, Shaw Pamela J, Morrison Karen E, Veldink Jan H, van den Berg Leonard H, Evans Sylvia, Nobrega Marcelo A, Aneas Ivy, Radivojkov-Blagojević Milena, Meitinger Thomas, Oechslin Erwin, Mondal Tapas, Bergin Lynn, Smythe John F, Altamirano-Diaz Luis, Lougheed Jane, Bouma Berto J, Chaix Marie-A, Kline Jennie, Bassett Anne S, Andelfinger Gregor, van der Palen Roel L F, Bouvagnet Patrice, Clur Sally-Ann B, Breckpot Jeroen, Kerstjens-Frederikse Wilhelmina S, Winlaw David S, Bauer Ulrike M M, Mital Seema, Goldmuntz Elizabeth, Keavney Bernard, Bonnet Damien, Mulder Barbara J, Tanck Michael W T, Bakkers Jeroen, Christoffels Vincent M, Boogerd Cornelis J, Postma Alex V, Bezzina Connie R
Abstract excerpt
RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance...
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