Surakka, Ida
https://orcid.org/0000-0002-6669-5541
Mayo Clinic
Department of Internal Medicine, Division of Cardiology (T.R., I.S., C.J.W., B.Y.)
Citations 2
Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve
Thériault, Sébastien , Holdcraft, Jacob A., Sharipova, Dinara , Dębiec, Radosław , Peloso, Gina M., Al‐Kassou, Baravan , Swan, Elena Ashikhmina , Ballotta, Andrea, Björck, Hanna M. , Braund, Peter S. , Corriveau, François, Dagenais, François, Francke, Michael, Gorbatov, Svetlana, Guo, Dongchuan, Habchi, Karam M, Scouarnec, Solena Le , Lichtner, Peter , Nguyen, Thy B., Norris, R., Pibarot, P, Simonet, Floriane, Tm, Sundt, Tessler, Idit , Willer, Cristen J., Wittmann, Susanne, Yang, Bo, Berezovets, Igor, Doppler, S. , Dreßen, Martina, Knoll, Katharina, Puehler, T., Schunkert, H, Bissell, Malenka M. , Bolger, Aidan, Brion, M, Citro, Rodolfo, Deeb, G. Michael, Corte, Alessandro Della, Dina, C., Eriksson, Per, Evangelista, Arturo , Franco-Cereceda, Anders, Gilon, Dan, Hetherington, Simon, Huggins, G S, Krane, Markus , Tourneau, Thierry Le, Limongelli, Giuseppe, Mathieu, P., Messika-Zeitoun, David, Michelena, Hector I., Milewicz, Dianna, Murdock, David R. , Nickenig, G., Nistri, Stefano, Nöthen, M, Samani, Nilesh J. , Schott, J., Webb, Tom R., Abdelilah-Seyfried, Salim, Schumacher, Johannes, Trenkwalder, Teresa , Body, Simon C. , Dina, Christian , Brión, Marı́a , Peloso, Gina M. , Webb, Tom R. , Faucherre, Adèle , Debiec, Radoslaw M , Peloso, Gina M , Al-Kassou, Baravan , Aranki, Sary , Ashikhmina Swan, Elena , Björck, Hanna M , Boureau, Anne Sophie , Braund, Peter S , Folkersen, Lasse , Guo, Dongchuan , Heydarpour, Mahyar , Isselbacher, Eric M , Jopling, Chris , Laporte, Fabien , Le Scouarnec, Solena , Li, Zhonglin , Lichtner, Peter , Maj, Carlo , Manikpurage, Hasanga D , Nguyen, Thy B , Norris, Russell A , Pibarot, Phillippe , Sarubbi, Berardo , Simonet, Floriane , Sundt, Thoralf , Surakka, Ida , Tessler, Idit , Yang, Bo , Doppler, Stefanie A , Dreßen, Martina , Knoll, Katharina , Puehler, Thomas , Schunkert, Heribert , Bissell, Malenka M , Bossé, Yohan , Bossone, Eduardo , Brion, María , Citro, Rodolfo , de Vincentiis, Carlo , Deeb, G Michael , Della Corte, Alessandro , Dina, Christian , Durst, Ronen , Ensminger, Stephan , Eriksson, Per , Evangelista, Arturo , Franco-Cereceda, Anders , Gilon, Dan , Giusti, Betti , Hetherington, Simon L , Huggins, Gordon S , Le Tourneau, Thierry , Limongelli, Giuseppe , Mathieu, Patrick , Messika-Zeitoun, David , Michelena, Hector I , Milewicz, Dianna M , Muehlschlegel, Jochen D , Murdock, David R , Nickenig, Georg , Nistri, Stefano , Nöthen, Markus M , Prakash, Siddharth K , Samani, Nilesh J , Jacques Schott, Jean , Webb, Tom R , Zaffran, Stéphane , Eagle, Kim , Body, Simon C , Holdcraft, Jacob A., Bellino, Michele , Dagenais, François, Forte, Amalia , Frigiola, Alessandro , Guo, Dongchuan , Isselbacher, Eric M. , Nelson, Christopher P. , Ong, Chin Siang , Roychowdhury, Tanmoy , Surakka, Ida , Willer, Cristen J , Aviérinos, Jean-François , Bolger, Aidan P. , Bossé, Yohan , Bossone, Eduardo , Citro, Rodolfo , Deeb, G. Michael , Corte, Alessandro Della , Gilon, Dan, Huggins, Gordon S. , Tourneau, Thierry Le , Mathieu, Patrick , Messika–Zeitoun, David , Nistri, Stefano , Nöthen, Markus M. , Pluchinotta, Francesca Romana , Prakash, Siddharth K. , Schott, Jean‐Jacques , Zaffran, Stéphane , Abdelilah‐Seyfried, Salim , Eagle, Kim A. , Schumacher, Johannes
Circulation | February 6, 2026 | Volume: 153 | Issue: 14 | Pages: 1060-1076
10.1161/circulationaha.125.074752
BACKGROUND: Bicuspid aortic valve (BAV) is a frequent congenital heart defect with a high heritability. Despite this, only a limited number of genes have been associated with the disease, and the molecular mechanisms remain unexplained in most cases. This study aimed to further understand the genetic architecture of BAV. METHODS: A genome-wide association study meta-analysis including 9631 cases among 65 677 participants was performed. Genes were prioritized using transcriptomic analyses based on RNA sequencing in relevant tissues, including human fetal and adult aortic valves. The impact of the knockdown or knockout of 4 candidate genes on cardiac development was verified in zebrafish. A polygenic risk score was developed, its association with BAV was evaluated in an independent cohort, and its association with a wide range of phenotypes (n=976) was evaluated in UK Biobank (n=355 618 individuals). RESULTS: Thirty-six genomic loci were identified, including 32 that were not described previously. Among the prioritized genes, KANK2 and ERBB4 were identified as potentially causal through transcriptomic analyses, colocalization, and Mendelian randomization based on gene expression in human aortic valves (n=484), whereas PRDM6 and STRN were prioritized using similar analyses from aortic (n=326) and left ventricular tissues (n=326), respectively. Targeting 4 candidate genes ( WNT4 , LEF1 , STRN , and KANK2 ) in zebrafish led to disruption in cardiac development. A polygenic risk score was associated with an odds ratio of 2.07 (95% CI, 1.90–2.25; P =5.43×10 -62 ) per SD for BAV and significantly associated with thoracic aortic aneurysm and atrial fibrillation in UK Biobank. CONCLUSIONS: This study supports a significant polygenic contribution to BAV, where the combination of multiple common variants in genes involved in heart morphogenesis disrupts aortic valve development.
GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment
Rietveld, Cornelius A. , Medland, Sarah E. , Derringer, Jaime , Esko, Tõnu , Martín, Nicolás W., Westra, Harm-Jan , Shakhbazov, Konstantin, Abdellaoui, Abdel , Albrecht, Eva, Alizadeh, Behrooz Z. , Amin, Najaf , Baumeister, Sebastian E. , Benke, Kelly S. , Bielak, Lawrence F. , Boatman, Jeffrey A. , Boyle, Patricia A. , Davies, Gail , Leeuw, Christiaan de , Eklund, Niina, Evans, Daniel S. , Ferhmann, Rudolf, Fischer, Krista , Gieger, Christian , Gjessing, Håkon K. , Hägg, Sara , Harris, Jennifer R. , Hayward, Caroline , Jacobsson, Bo , Joshi, Peter K. , Jugessur, Astanand , Kaakinen, Marika , Kanoni, Stavroula , Karjalainen, Juha, Kolčić, Ivana , Kristiansson, Kati , Kutalik, Zoltán , Lahti, Jari , Lee, Sang , Lin, Peng, Lind, Penelope A. , Lohman, Kurt, Loitfelder, Marisa, McMahon, George, Marques‐Vidal, Pedro , Meirelles, Osorio , Milani, Lili , Myhre, Ronny , Nuotio, Marja-Liisa , Oldmeadow, Christopher , Petrovic, Katja, Peyrot, Wouter J. , Polašek, Ozren , Quaye, Lydia, Reinmaa, Eva, Rice, John P. , Rizzi, Thais S., Schmidt, Helena , Schmidt, Reinhold, Smith, Albert V. , Smith, Jennifer A. , Terracciano, Antonio , Loos, Matthijs J. H. M. van der, Vitart, Véronique , Völzke, Henry , Wellmann, Jürgen , Yu, Lei , Zhao, Wei , Allïk, Jüri , Bandinelli, Stefania , Bastardot, François , Beauchamp, Jonathan , Bennett, David A. , Berger, Klaus, Bültmann, Ute , Campbell, Harry, Chabris, Christopher F., Cherkas, Lynn, Chung, Mina K. , Cucca, Francesco , Jager, Philip L. De , Neve, Jan-Emmanuel De, Deary, Ian J. , Dedoussis, George , Deloukas, Panos , Dimitriou, Maria , Eiríksdóttir, Guðný , Elderson, Martin F., Eriksson, Johan G. , Evans, David M. , Faul, Jessica D. , Ferrucci, Luigi , Garcia, Melissa E., Grönberg, Henrik , Guðnason, Vilmundur , Harris, Tamara B., Hastie, Nicholas D. , Hernández, Dena , Hoffmann, Wolfgang , Hofman, Adriaan, Holle, Rolf , Holliday, Elizabeth G., Hottenga, Jouke‐Jan , Illig, Thomas, Järvelin, Marjo‐Riitta , Kähönen, Mika , Kaprio, Jaakko , Kirkpatrick, Robert M. , Kowgier, Matthew , Latvala, Antti , Lawlor, Debbie A. , Lehtimäki, Terho , Li, Jingmei , Lichtenstein, Paul , Lichtner, Peter , Liewald, David C. , Madden, Pamela A. F., Magnusson, Patrik K. E. , Mäkinen, Tomi E., Masala, Marco , McGue, Matt , Mielck, Andreas, Miller, Michael B., Montgomery, Grant W. , Mukherjee, Sutapa , Nyholt, Dale R. , Oostra, Ben A., Palmer, Lyle J. , Palotie, Aarno , Perola, Markus, Peyser, Patricia A. , Preisig, Martin , Räikkönen, Katri , Rivadeneira, Fernando , Rudan, Igor , Rustichini, Aldo , Sarin, Antti-Pekka, Schlessinger, David, Scott, Rodney J. , Snieder, Harold , Pourcain, Beaté St , Starr, John M. , Sul, Jae Hoon , Surakka, Ida , Svento, Rauli , Teumer, Alexander , Study, The LifeLines Cohort, Tiemeier, Henning , Rooij, Frank J.A. van , Wagoner, David R. Van , Vartiainen, Erkki , Viikari, Jorma , Vollenweider, Péter , Vonk, Judith M. , Waeber, Gérard , Weir, David R. , Wichmann, H.‐Erich , Widén, Elisabeth , Willemsen, Gonneke , Wright, Alan F., Davey-Smith, George, Franke, Lude , Groenen, Patrick J. F. , Hofman, Albert , Johannesson, Magnus , Kardia, Sharon L. R., Krueger, Robert F., Laibson, David, Martin, Nicholas G. , Meyer, Michelle N., Posthuma, Daniëlle , Thurik, Roy , Timpson, Nicholas J. , Uitterlinden, André G. , Duijn, Cornelia M. van , Visscher, Peter M. , Benjamin, Daniel J. , Cesarini, David , Koellinger, Philipp , Bennett, David A. , Smith, George Davey , Meyer, Michelle N. , Westra, Harm-Jan , Yang, Jian , Agrawal, Arpana , Barnard, John , Holzapfel, Christina M. , Ibrahim‐Verbaas, Carla A. , Ingelsson, Erik , Lin, Peng, Liu, Ching‐Ti , Tanaka, Toshiko , Attia, John , Berger, Klaus, Bierut, Laura Jean , Boomsma, Dorret I , Andrade, Mariza de , Hall, Per N , Harris, Juliette , Heath, Andrew C. , Hofman, Adriaan, Holliday, Elizabeth G., Iacono, William G. , Launer, Lenore J. , Mäkinen, Tomi E., Metspalu, Andres , Palotie, Aarno V. , Penninx, Brenda W.J.H. , Raitakari, Olli Tuomas , Realo, Anu , Ring, Susan M. , Ripatti, Samuli , Salomaa, Veikko , Study, The LifeLines Cohort, Wilson, James Fox , Conley, Dalton , Davey-Smith, George, Smith, Jennifer A , Hottenga, Jouke-Jan , Martin, Nicholas G , Posthuma, Danielle , St Pourcain, Beate , Medland, Sarah E , Li, Jingmei , Teumer, Alexander , van Duijn, Cornelia M , Smith, Albert V , Ferrucci, Luigi , Davey Smith, George , Vonk, Judith M , Kanoni, Stavroula , Surakka, Ida
Science | May 31, 2013 | Volume: 340 | Issue: 6139 | Pages: 1467-1471
Genetic College Many genomic elements in humans are associated with behavior, including educational attainment. In a genome-wide association study including more than 100,000 samples, Rietveld et al. (p. 1467 , published online 30 May; see the Perspective by Flint and Munafò ) looked for genes related to educational attainment in Caucasians. Small genetic effects at three loci appeared to impact educational attainment.