Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.
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| Title: | Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve. |
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| Authors: | Thériault S; Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval (S.T., F.D., Z.L., H.D.M., P.P., Y.B., P.M.)., Holdcraft JA; Department of Biostatistics, School of Public Health, Boston University, MA (J.A.H., G.M.P.)., Sharipova D; Department of Animal Physiology, Institute of Biochemistry and Biology, University of Potsdam, Germany (D.S., S.A.-S.)., Faucherre A; Institut de Génomique Fonctionnelle, University of Montpellier, Centre national de la recherche scientifique, Institut national de la santé et de la recherche médicale, France (A. Faucherre, C.J.)., Debiec RM; Department of Cardiovascular Sciences, Leicester British Heart Foundation Centre of Research Excellence and National Institute for Health and Care Research Leicester Biomedical Research Centre, University of Leicester (R.M.D., P.S.B., C.P.N., A.P.B., N.J.S., T.R.W.)., Peloso GM; Department of Biostatistics, School of Public Health, Boston University, MA (J.A.H., G.M.P.)., Al-Kassou B; Department of Medicine II, Heart Center Bonn (B.A.-K., G.N.), University of Bonn and University Hospital Bonn, Germany., Aranki S; Brigham and Women's Hospital, Boston, MA (S.A., M.D.F., S.G.)., Ashikhmina Swan E; Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN (E.A.S.)., Ballotta A; Centro Cardiologico Monzino Istituto di Ricovero e Cura a Carattere Scientifico Via Parea, Milan University, Italy (A.B.)., Bellino M; University Study of Salerno, Italy (M. Bellino)., Björck HM; Division of Cardiology, Center for Molecular Medicine, Department of Medicine (H.M.B., P.E.), Karolinska Institutet, Stockholm, Sweden.; Karolinska University Hospital, Solna, Sweden (H.M.B., P.E., A.F.-C.)., Boureau AS; Nantes Université, CHU Nantes, Centre national de la recherche scientifique, Institut national de la santé et de la recherche médicale, L'Institut du Thorax, France (A.S.B., F.L., S.L.S., F.S., C.D., T.L.T., J.-J.S.)., Braund PS; Department of Cardiovascular Sciences, Leicester British Heart Foundation Centre of Research Excellence and National Institute for Health and Care Research Leicester Biomedical Research Centre, University of Leicester (R.M.D., P.S.B., C.P.N., A.P.B., N.J.S., T.R.W.)., Corriveau F; Université Laval, Quebec City, Canada (F.C.)., Dagenais F; Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval (S.T., F.D., Z.L., H.D.M., P.P., Y.B., P.M.)., Folkersen L; Nucleus Genomics, New York, NY (L.F.)., Forte A; University of Campania L. Vanvitelli, Naples, Italy (A. Forte, A.D.C.)., Francke MD; Brigham and Women's Hospital, Boston, MA (S.A., M.D.F., S.G.)., Frigiola A; Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Donato, San Donato Milanese, Italy (A. Frigiola, C.d.V., F.P.)., Gorbatov S; Brigham and Women's Hospital, Boston, MA (S.A., M.D.F., S.G.)., Guo D; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (D.G., D.M., D.R.M., S.K.P.)., Habchi KM; New York-Presbyterian Weill Cornell Medical Center, New York, NY (K.M.H.)., Heydarpour M; Department of Medicine, Boston, MA (M.H.)., Isselbacher EM; Massachusetts General Hospital, Boston (E.M.I., T.S.)., Jopling C; Institut de Génomique Fonctionnelle, University of Montpellier, Centre national de la recherche scientifique, Institut national de la santé et de la recherche médicale, France (A. Faucherre, C.J.)., Laporte F; Nantes Université, CHU Nantes, Centre national de la recherche scientifique, Institut national de la santé et de la recherche médicale, L'Institut du Thorax, France (A.S.B., F.L., S.L.S., F.S., C.D., T.L.T., J.-J.S.)., Le Scouarnec S; Nantes Université, CHU Nantes, Centre national de la recherche scientifique, Institut national de la santé et de la recherche médicale, L'Institut du Thorax, France (A.S.B., F.L., S.L.S., F.S., C.D., T.L.T., J.-J.S.)., Li Z; Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval (S.T., F.D., Z.L., H.D.M., P.P., Y.B., P.M.)., Lichtner P; Helmholtz Munich, Neuherberg, Germany (P.L., S.W.)., Maj C; Institute of Human Genetics, Philipps University of Marburg, Germany (C.M., J.S.)., Manikpurage HD; Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval (S.T., F.D., Z.L., H.D.M., P.P., Y.B., P.M.)., Nelson CP; Department of Cardiovascular Sciences, Leicester British Heart Foundation Centre of Research Excellence and National Institute for Health and Care Research Leicester Biomedical Research Centre, University of Leicester (R.M.D., P.S.B., C.P.N., A.P.B., N.J.S., T.R.W.)., Nguyen TB; University of Colorado, Aurora (T.B.N.)., Norris RA; Medical University of South Carolina, Charleston (R.A.N.)., Ong CS; Yale University School of Medicine, New Haven, CT (C.S.O.)., Pibarot P; Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval (S.T., F.D., Z.L., H.D.M., P.P., Y.B., P.M.)., Roychowdhury T; Department of Internal Medicine, Division of Cardiology (T.R., I.S., C.J.W., B.Y.).; Department of Biology and Koita Centre for Digital Health, Trivedi School of Biosciences, Ashoka University, Sonepat, India (T.R.)., Sarubbi B; Department of Biology and Koita Centre for Digital Health, Trivedi School of Biosciences, Ashoka University, Sonepat, India (T.R.).; Adult Congenital Heart Disease and Congenital and Familial Arrhythmias Unit, Monaldi Hospital, Naples, Italy (B.S.)., Simonet F; Nantes Université, CHU Nantes, Centre national de la recherche scientifique, Institut national de la santé et de la recherche médicale, L'Institut du Thorax, France (A.S.B., F.L., S.L.S., F.S., C.D., T.L.T., J.-J.S.)., Sundt T; Massachusetts General Hospital, Boston (E.M.I., T.S.)., Surakka I; Department of Internal Medicine, Division of Cardiology (T.R., I.S., C.J.W., B.Y.)., Tessler I; Sheba Medical center, Ramat Gan, Israel (I.T.)., Willer CJ; Department of Internal Medicine, Division of Cardiology (T.R., I.S., C.J.W., B.Y.)., Wittmann S; Helmholtz Munich, Neuherberg, Germany (P.L., S.W.)., Yang B; Department of Internal Medicine, Division of Cardiology (T.R., I.S., C.J.W., B.Y.)., Berezovets I; Department of Cardiac and Thoracic Vascular Surgery, University Heart Center Lübeck, University Medical Center Schleswig-Holstein, Germany (I.B., T.P., S.E.)., Doppler SA; Department of Cardiovascular Surgery, Institute Insure (S.A.D., M.D., M.K.), German Heart Center Munich, School of Medicine and Health, Technical University of Munich University Hospital, Technical University of Munich., Dreßen M; Department of Cardiovascular Surgery, Institute Insure (S.A.D., M.D., M.K.), German Heart Center Munich, School of Medicine and Health, Technical University of Munich University Hospital, Technical University of Munich., Knoll K; Department of Cardiovascular Diseases (K.K., H.S., T.T.), German Heart Center Munich, School of Medicine and Health, Technical University of Munich University Hospital, Technical University of Munich.; German Center for Cardiovascular Disease, Partner Site Munich Heart Alliance (K.K., H.S., M.K., T.T.)., Puehler T; Department of Cardiac and Thoracic Vascular Surgery, University Heart Center Lübeck, University Medical Center Schleswig-Holstein, Germany (I.B., T.P., S.E.)., Schunkert H; Department of Cardiovascular Diseases (K.K., H.S., T.T.), German Heart Center Munich, School of Medicine and Health, Technical University of Munich University Hospital, Technical University of Munich.; German Center for Cardiovascular Disease, Partner Site Munich Heart Alliance (K.K., H.S., M.K., T.T.)., Avierinos JF; Service de Cardiologie, Assistance Publique - Hôpitaux de Marseille, Hôpital de la Timone, Marseille, France (J.-F.A.)., Bissell MM; Leeds Institute of Cardiovascular and Metabolic Medicine, University of Leeds, United Kingdom (M.M.B.)., Bolger AP; Department of Cardiovascular Sciences, Leicester British Heart Foundation Centre of Research Excellence and National Institute for Health and Care Research Leicester Biomedical Research Centre, University of Leicester (R.M.D., P.S.B., C.P.N., A.P.B., N.J.S., T.R.W.)., Bossé Y; Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval (S.T., F.D., Z.L., H.D.M., P.P., Y.B., P.M.)., Bossone E; Department of Public Health, Faculty of Medicine, University of Naples 'Federico II,' Italy (E.B.)., Brion M; Xenética Cardiovascular, Instituto de Investigación Sanitaria de Santiago, Complexo Hositalario Universitario de Santiago, Santiago de Compostela, Spain (M.B.)., Citro R; Department of Medicine and Health Science, University of Molise, Campobasso, Italy (R.C.).; Department of Vascular Pathophysiology, Istituto di Ricovero e Cura a Carattere Scientifico Neuromed, Pozzilli, Italy (R.C.)., de Vincentiis C; Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Donato, San Donato Milanese, Italy (A. Frigiola, C.d.V., F.P.)., Deeb GM; Department of Cardiac Surgery (G.M.D.)., Della Corte A; University of Campania L. Vanvitelli, Naples, Italy (A. Forte, A.D.C.)., Dina C; Nantes Université, CHU Nantes, Centre national de la recherche scientifique, Institut national de la santé et de la recherche médicale, L'Institut du Thorax, France (A.S.B., F.L., S.L.S., F.S., C.D., T.L.T., J.-J.S.)., Durst R; Cardiology Department, Hadassah Hebrew University Medical Center, Jerusalem, Israel (R.D., D.G.)., Ensminger S; Department of Cardiac and Thoracic Vascular Surgery, University Heart Center Lübeck, University Medical Center Schleswig-Holstein, Germany (I.B., T.P., S.E.)., Eriksson P; Division of Cardiology, Center for Molecular Medicine, Department of Medicine (H.M.B., P.E.), Karolinska Institutet, Stockholm, Sweden.; Karolinska University Hospital, Solna, Sweden (H.M.B., P.E., A.F.-C.)., Evangelista A; Hospital Universitari Vall d'Hebron, Barcelona, Spain (A.E.)., Franco-Cereceda A; Department of Molecular Medicine and Surgery (A.F.-C.), Karolinska Institutet, Stockholm, Sweden.; Karolinska University Hospital, Solna, Sweden (H.M.B., P.E., A.F.-C.)., Gilon D; Cardiology Department, Hadassah Hebrew University Medical Center, Jerusalem, Israel (R.D., D.G.)., Giusti B; Department of Experimental and Clinical Medicine, University of Florence, Italy (B.G., S.N.)., Hetherington SL; Kettering General Hospital National Health Service Foundation Trust, Kettering, United Kingdom (S.L.H.)., Huggins GS; Tufts Medical Center, Boston, MA (G.S.H.)., Krane M; Department of Cardiovascular Surgery, Institute Insure (S.A.D., M.D., M.K.), German Heart Center Munich, School of Medicine and Health, Technical University of Munich University Hospital, Technical University of Munich.; German Center for Cardiovascular Disease, Partner Site Munich Heart Alliance (K.K., H.S., M.K., T.T.)., Le Tourneau T; Nantes Université, CHU Nantes, Centre national de la recherche scientifique, Institut national de la santé et de la recherche médicale, L'Institut du Thorax, France (A.S.B., F.L., S.L.S., F.S., C.D., T.L.T., J.-J.S.)., Limongelli G; Department of Translational Medical Sciences, University of Campania Luigi Vanvitelli, Naples, Italy (G.L.)., Mathieu P; Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval (S.T., F.D., Z.L., H.D.M., P.P., Y.B., P.M.)., Messika-Zeitoun D; Department of Translational Medical Sciences, University of Campania Luigi Vanvitelli, Naples, Italy (G.L.)., Michelena HI; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN (H.I.M.)., Milewicz D; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (D.G., D.M., D.R.M., S.K.P.)., Muehlschlegel JD; Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (J.D.M.)., Murdock DR; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (D.G., D.M., D.R.M., S.K.P.)., Nickenig G; Department of Medicine II, Heart Center Bonn (B.A.-K., G.N.), University of Bonn and University Hospital Bonn, Germany., Nistri S; Department of Experimental and Clinical Medicine, University of Florence, Italy (B.G., S.N.).; Centro Medico Strumentale Riabilitativo Veneto Medica, Altavilla Vicentina, Italy (S.N.)., Nöthen MM; Institute of Human Genetics (M.M.N., J.S.), University of Bonn and University Hospital Bonn, Germany., Pluchinotta F; Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Donato, San Donato Milanese, Italy (A. Frigiola, C.d.V., F.P.)., Prakash SK; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (D.G., D.M., D.R.M., S.K.P.)., Samani NJ; Department of Cardiovascular Sciences, Leicester British Heart Foundation Centre of Research Excellence and National Institute for Health and Care Research Leicester Biomedical Research Centre, University of Leicester (R.M.D., P.S.B., C.P.N., A.P.B., N.J.S., T.R.W.)., Schott JJ; Nantes Université, CHU Nantes, Centre national de la recherche scientifique, Institut national de la santé et de la recherche médicale, L'Institut du Thorax, France (A.S.B., F.L., S.L.S., F.S., C.D., T.L.T., J.-J.S.)., Webb TR; Department of Cardiovascular Sciences, Leicester British Heart Foundation Centre of Research Excellence and National Institute for Health and Care Research Leicester Biomedical Research Centre, University of Leicester (R.M.D., P.S.B., C.P.N., A.P.B., N.J.S., T.R.W.)., Zaffran S; Aix Marseille Université, Institut national de la santé et de la recherche médicale, Marseille Medical Genetics, U1251, France (S.Z.)., Abdelilah-Seyfried S; Department of Animal Physiology, Institute of Biochemistry and Biology, University of Potsdam, Germany (D.S., S.A.-S.)., Eagle K; Michigan Medicine, University of Michigan, Ann Arbor (K.E.)., Schumacher J; Institute of Human Genetics (M.M.N., J.S.), University of Bonn and University Hospital Bonn, Germany.; Institute of Human Genetics, Philipps University of Marburg, Germany (C.M., J.S.)., Trenkwalder T; Department of Cardiovascular Diseases (K.K., H.S., T.T.), German Heart Center Munich, School of Medicine and Health, Technical University of Munich University Hospital, Technical University of Munich.; German Center for Cardiovascular Disease, Partner Site Munich Heart Alliance (K.K., H.S., M.K., T.T.)., Body SC; Department of Anesthesiology, Boston University, MA (S.C.B.). |
| Source: | Circulation [Circulation] 2026 Apr 07; Vol. 153 (14), pp. 1060-1076. Date of Electronic Publication: 2026 Feb 06. |
| Publication Type: | Journal Article; Meta-Analysis |
| Journal Info: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0147763 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4539 (Electronic) Linking ISSN: 00097322 NLM ISO Abbreviation: Circulation Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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