Search

Your search keyword '"Tanck, Michael W. T."' showing total 278 results
Start Over Author "Tanck, Michael W. T."
278 results on '"Tanck, Michael W. T."'

1. Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene

Author

van de Beek, Irma, Glykofridis, Iris E., Tanck, Michael W. T., Luijten, Monique N. H., Starink, Theo M., Balk, Jesper A., Johannesma, Paul C., Hennekam, Eric, van den Hoff, Maurice J. B., Gunst, Quinn D., Gille, Johan J. P., Polstra, Abeltje M., Postmus, Pieter E., van Steensel, Maurice A. M., Postma, Alex V., Wolthuis, Rob M. F., Menko, Fred H., Houweling, Arjan C., and Waisfisz, Quinten

Published
2023
Full Text
View/download PDF

2. FCGR2/3 polymorphisms are associated with susceptibility to Kawasaki disease but do not predict intravenous immunoglobulin resistance and coronary artery aneurysms.

Author

Uittenbogaard, Paula, Netea, Stejara A., Tanck, Michael W. T., Geissler, Judy, Buda, Piotr, Kowalczyk-Domagała, Monika, Okarska-Napierała, Magdalena, van Stijn, Diana, Tacke, Carline E., Burgner, David P., Shimizu, Chisato, Burns, Jane C., Kuipers, Irene M., Kuijpers, Taco W., and Nagelkerke, Sietse Q.

Subjects
SINGLE nucleotide polymorphisms, MUCOCUTANEOUS lymph node syndrome, GENETIC variation, INTRAVENOUS immunoglobulins, GENETIC markers
Abstract

Introduction: Kawasaki disease (KD) is a pediatric vasculitis that can result in coronary artery aneurysm (CAA) formation, which is a dangerous complication. Treatment with intravenous immunoglobulin (IVIg) significantly decreases the risk of CAA, possibly through competitive binding to Fc-gamma receptors (FcgRs), which reduces the binding of pathological immune complexes. However, ~20% of children have recrudescence of fever and have an increased risk of CAA. Therefore, we aimed to identify genetic markers at the FCGR2/3 locus associated with susceptibility to KD, IVIg resistance, or CAA. Materials and methods: We investigated the association of single-nucleotide polymorphisms (SNPs) and copy number variations (CNVs) at the FCGR2/3 locus with KD susceptibility, IVIg resistance, and CAA risk using a family-based test (KD susceptibility) and case-control analyses (IVIg resistance and CAA risk) in different cohorts, adding up to a total of 1,167 KD cases. We performed a meta-analysis on IVIg resistance and CAA risk including all cohorts supplemented by previous studies identified through a systematic search. Results: FCGR2A-p.166His was confirmed to be strongly associated with KD susceptibility (Z = 3.17, p = 0.0015). In case-control analyses, all of the investigated genetic variations at the FCGR2/3 locus were generally not associated with IVIg resistance or with CAA risk, apart from a possible association in a Polish cohort for the FCGR3B-NA2 haplotype (OR = 2.15, 95% CI = 1.15-4.01, p = 0.02). Meta-analyses of all available cohorts revealed no significant associations of the FCGR2/3 locus with IVIg resistance or CAA risk. Discussion: FCGR2/3 polymorphisms are associated with susceptibility to KD but not with IVIg resistance and CAA formation. Currently known genetic variations at the FCGR2/3 locus are not useful in prediction models for IVIg resistance or CAA risk. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

4. Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci

Author

Ishikawa, Taisuke, primary, Masuda, Tatsuo, additional, Hachiya, Tsuyoshi, additional, Dina, Christian, additional, Simonet, Floriane, additional, Nagata, Yuki, additional, Tanck, Michael W T, additional, Sonehara, Kyuto, additional, Glinge, Charlotte, additional, Tadros, Rafik, additional, Khongphatthanayothin, Apichai, additional, Lu, Tzu-Pin, additional, Higuchi, Chihiro, additional, Nakajima, Tadashi, additional, Hayashi, Kenshi, additional, Aizawa, Yoshiyasu, additional, Nakano, Yukiko, additional, Nogami, Akihiko, additional, Morita, Hiroshi, additional, Ohno, Seiko, additional, Aiba, Takeshi, additional, Juárez, Christian Krijger, additional, Mauleekoonphairoj, John, additional, Poovorawan, Yong, additional, Gourraud, Jean-Baptiste, additional, Shimizu, Wataru, additional, Probst, Vincent, additional, Horie, Minoru, additional, Wilde, Arthur A M, additional, Redon, Richard, additional, Juang, Jyh-Ming Jimmy, additional, Nademanee, Koonlawee, additional, Bezzina, Connie R, additional, Barc, Julien, additional, Tanaka, Toshihiro, additional, Okada, Yukinori, additional, Schott, Jean-Jacques, additional, and Makita, Naomasa, additional

Published
2024
Full Text
View/download PDF

5. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Author

Tadros, Rafik, Francis, Catherine, Xu, Xiao, Vermeer, Alexa M. C., Harper, Andrew R., Huurman, Roy, Kelu Bisabu, Ken, Walsh, Roddy, Hoorntje, Edgar T., te Rijdt, Wouter P., Buchan, Rachel J., van Velzen, Hannah G., van Slegtenhorst, Marjon A., Vermeulen, Jentien M., Offerhaus, Joost Allard, Bai, Wenjia, de Marvao, Antonio, Lahrouchi, Najim, Beekman, Leander, Karper, Jacco C., Veldink, Jan H., Kayvanpour, Elham, Pantazis, Antonis, Baksi, A. John, Whiffin, Nicola, Mazzarotto, Francesco, Sloane, Geraldine, Suzuki, Hideaki, Schneider-Luftman, Deborah, Elliott, Paul, Richard, Pascale, Ader, Flavie, Villard, Eric, Lichtner, Peter, Meitinger, Thomas, Tanck, Michael W. T., van Tintelen, J. Peter, Thain, Andrew, McCarty, David, Hegele, Robert A., Roberts, Jason D., Amyot, Julie, Dubé, Marie-Pierre, Cadrin-Tourigny, Julia, Giraldeau, Geneviève, L’Allier, Philippe L., Garceau, Patrick, Tardif, Jean-Claude, Boekholdt, S. Matthijs, Lumbers, R. Thomas, Asselbergs, Folkert W., Barton, Paul J. R., Cook, Stuart A., Prasad, Sanjay K., O’Regan, Declan P., van der Velden, Jolanda, Verweij, Karin J. H., Talajic, Mario, Lettre, Guillaume, Pinto, Yigal M., Meder, Benjamin, Charron, Philippe, de Boer, Rudolf A., Christiaans, Imke, Michels, Michelle, Wilde, Arthur A. M., Watkins, Hugh, Matthews, Paul M., Ware, James S., and Bezzina, Connie R.

Published
2021
Full Text
View/download PDF

8. Large genome-wide association study identifies three novel risk variants for restless legs syndrome

Author

Didriksen, Maria, Nawaz, Muhammad Sulaman, Dowsett, Joseph, Bell, Steven, Erikstrup, Christian, Pedersen, Ole B., Sørensen, Erik, Jennum, Poul J., Burgdorf, Kristoffer S., Burchell, Brendan, Butterworth, Adam S., Soranzo, Nicole, Rye, David B., Trotti, Lynn Marie, Saini, Prabhjyot, Stefansdottir, Lilja, Magnusson, Sigurdur H., Thorleifsson, Gudmar, Sigmundsson, Thordur, Sigurdsson, Albert P., Van Den Hurk, Katja, Quee, Franke, Tanck, Michael W. T., Ouwehand, Willem H., Roberts, David J., Earley, Eric J., Busch, Michael P., Mast, Alan E., Page, Grier P., Danesh, John, Di Angelantonio, Emanuele, Stefansson, Hreinn, Ullum, Henrik, and Stefansson, Kari

Published
2020
Full Text
View/download PDF

9. Flecainide Is Associated With a Lower Incidence of Arrhythmic Events in a Large Cohort of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

Author

Bergeman, Auke T, Lieve, Krystien V V, Kallas, Dania, Bos, J Martijn, Rosés I Noguer, Ferran, Denjoy, Isabelle, Zorio, Esther, Kammeraad, Janneke A E, Peltenburg, Puck J, Tobert, Katie, Aiba, Takeshi, Atallah, Joseph, Drago, Fabrizio, Batra, Anjan S, Brugada, Ramon, Borggrefe, Martin, Clur, Sally-Ann B, Cox, Moniek G P J, Davis, Andrew, Dhillon, Santokh, Etheridge, Susan P, Fischbach, Peter, Franciosi, Sonia, Haugaa, Kristina, Horie, Minoru, Johnsrude, Christopher, Kane, Austin M, Krause, Ulrich, Kwok, Sit-Yee, LaPage, Martin J, Ohno, Seiko, Probst, Vincent, Roberts, Jason D, Robyns, Tomas, Sacher, Frederic, Semsarian, Christopher, Skinner, Jonathan R, Swan, Heikki, Tavacova, Terezia, Tisma-Dupanovic, Svjetlana, Tfelt-Hansen, Jacob, Yap, Sing-Chien, Kannankeril, Prince J, Leenhardt, Antoine, Till, Janice, Sanatani, Shubhayan, Tanck, Michael W T, Ackerman, Michael J, Wilde, Arthur A M, van der Werf, Christian, Bergeman, Auke T, Lieve, Krystien V V, Kallas, Dania, Bos, J Martijn, Rosés I Noguer, Ferran, Denjoy, Isabelle, Zorio, Esther, Kammeraad, Janneke A E, Peltenburg, Puck J, Tobert, Katie, Aiba, Takeshi, Atallah, Joseph, Drago, Fabrizio, Batra, Anjan S, Brugada, Ramon, Borggrefe, Martin, Clur, Sally-Ann B, Cox, Moniek G P J, Davis, Andrew, Dhillon, Santokh, Etheridge, Susan P, Fischbach, Peter, Franciosi, Sonia, Haugaa, Kristina, Horie, Minoru, Johnsrude, Christopher, Kane, Austin M, Krause, Ulrich, Kwok, Sit-Yee, LaPage, Martin J, Ohno, Seiko, Probst, Vincent, Roberts, Jason D, Robyns, Tomas, Sacher, Frederic, Semsarian, Christopher, Skinner, Jonathan R, Swan, Heikki, Tavacova, Terezia, Tisma-Dupanovic, Svjetlana, Tfelt-Hansen, Jacob, Yap, Sing-Chien, Kannankeril, Prince J, Leenhardt, Antoine, Till, Janice, Sanatani, Shubhayan, Tanck, Michael W T, Ackerman, Michael J, Wilde, Arthur A M, and van der Werf, Christian

Abstract

BACKGROUND: In severely affected patients with catecholaminergic polymorphic ventricular tachycardia, beta-blockers are often insufficiently protective. The purpose of this study was to evaluate whether flecainide is associated with a lower incidence of arrhythmic events (AEs) when added to beta-blockers in a large cohort of patients with catecholaminergic polymorphic ventricular tachycardia.METHODS: From 2 international registries, this multicenter case cross-over study included patients with a clinical or genetic diagnosis of catecholaminergic polymorphic ventricular tachycardia in whom flecainide was added to beta-blocker therapy. The study period was defined as the period in which background therapy (ie, beta-blocker type [beta1-selective or nonselective]), left cardiac sympathetic denervation, and implantable cardioverter defibrillator treatment status, remained unchanged within individual patients and was divided into pre-flecainide and on-flecainide periods. The primary end point was AEs, defined as sudden cardiac death, sudden cardiac arrest, appropriate implantable cardioverter defibrillator shock, and arrhythmic syncope. The association of flecainide with AE rates was assessed using a generalized linear mixed model assuming negative binomial distribution and random effects for patients.RESULTS: A total of 247 patients (123 [50%] females; median age at start of flecainide, 18 years [interquartile range, 14-29]; median flecainide dose, 2.2 mg/kg per day [interquartile range, 1.7-3.1]) were included. At baseline, all patients used a beta-blocker, 70 (28%) had an implantable cardioverter defibrillator, and 21 (9%) had a left cardiac sympathetic denervation. During a median pre-flecainide follow-up of 2.1 years (interquartile range, 0.4-7.2), 41 patients (17%) experienced 58 AEs (annual event rate, 5.6%). During a median on-flecainide follow-up of 2.9 years (interquartile range, 1.0-6.0), 23 patients (9%) experienced 38 AEs (annual event rate

Published
2023

11. Immunogenicity of a 5‐dose pneumococcal vaccination schedule following allogeneic hematopoietic stem cell transplantation

Author

Garcia Garrido, Hannah M., primary, Haggenburg, Sabine, additional, Schoordijk, Marieke C. E., additional, Meijer, Ellen, additional, Tanck, Michael W. T., additional, Hazenberg, Mette D., additional, Rutten, Caroline E., additional, Bree, Godelieve J., additional, Nur, Erfan, additional, Meek, Bob, additional, Grobusch, Martin P., additional, and Goorhuis, Abraham, additional

Published
2022
Full Text
View/download PDF

16. Chronically elevated branched chain amino acid levels are pro-arrhythmic

Author

Portero, Vincent, primary, Nicol, Thomas, additional, Podliesna, Svitlana, additional, Marchal, Gerard A, additional, Baartscheer, Antonius, additional, Casini, Simona, additional, Tadros, Rafik, additional, Treur, Jorien L, additional, Tanck, Michael W T, additional, Cox, I Jane, additional, Probert, Fay, additional, Hough, Tertius A, additional, Falcone, Sara, additional, Beekman, Leander, additional, Müller-Nurasyid, Martina, additional, Kastenmüller, Gabi, additional, Gieger, Christian, additional, Peters, Annette, additional, Kääb, Stefan, additional, Sinner, Moritz F, additional, Blease, Andrew, additional, Verkerk, Arie O, additional, Bezzina, Connie R, additional, Potter, Paul K, additional, and Remme, Carol Ann, additional

Published
2021
Full Text
View/download PDF

18. Erratum: Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure (PLoS ONE (2020)15:2(e0226936)Doi: 10.1371/journal.pone.0226936)

Author

Glinge, Charlotte, Engstrøm, Thomas, Midgley, Sofie E., Tanck, Michael W. T., Madsen, Jeppe Ekstrand Halkjær, Pedersen, Frants, Jacobsen, Mia Ravn, Lodder, Elisabeth M., Al-Hussainy, Nour R., Stampe, Niels Kjær, Trebbien, Ramona, Køber, Lars, Gerds, Thomas, Torp-Pedersen, Christian, Fischer, Thea K. lsen, Bezzina, Connie R., Tfelt-Hansen, Jacob, Jabbari, Reza, Epidemiology and Data Science, APH - Methodology, Cardiology, Human Genetics, and ACS - Heart failure & arrhythmias

Abstract

The fifteenth author's initials are indexed incorrectly in PubMed. The correct initials are: Fischer TK.

Published
2020

19. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Author

Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G., Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L., Mazzanti, Andrea, Beckmann, Britt M., Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D., Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A., Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E., Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J., Bos, J. Martijn, Sarquella-Brugada, Georgia, Campuzano, Oscar, Platonov, Pyotr G., Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Andersen, Peter M., Mueller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribases, Marta, Aung, Tin, Khor, Chiea C., Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J. Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D., Antzelevitch, Charles, Roden, Dan M., Saenen, Johan, Borggrefe, Martin, Odening, Katja E., Ellinor, Patrick T., Tfelt-Hansen, Jacob, Skinner, Jonathan R., van den Berg, Maarten P., Olesen, Morten Salling, Brugada, Josep, Brugada, Ramon, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R., Rydberg, Annika, Aiba, Takeshi, Kaeaeb, Stefan, Priori, Silvia G., Guicheney, Pascale, Tan, Hanno L., Newton-Cheh, Christopher, Ackerman, Michael J., Schwartz, Peter J., Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W. T., Bezzina, Connie R., Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G., Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L., Mazzanti, Andrea, Beckmann, Britt M., Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D., Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A., Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E., Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J., Bos, J. Martijn, Sarquella-Brugada, Georgia, Campuzano, Oscar, Platonov, Pyotr G., Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Andersen, Peter M., Mueller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribases, Marta, Aung, Tin, Khor, Chiea C., Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J. Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D., Antzelevitch, Charles, Roden, Dan M., Saenen, Johan, Borggrefe, Martin, Odening, Katja E., Ellinor, Patrick T., Tfelt-Hansen, Jacob, Skinner, Jonathan R., van den Berg, Maarten P., Olesen, Morten Salling, Brugada, Josep, Brugada, Ramon, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R., Rydberg, Annika, Aiba, Takeshi, Kaeaeb, Stefan, Priori, Silvia G., Guicheney, Pascale, Tan, Hanno L., Newton-Cheh, Christopher, Ackerman, Michael J., Schwartz, Peter J., Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W. T., and Bezzina, Connie R.

Abstract

Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative). These observations raise the possibility that common genetic variants with small effect size contribute to the clinical picture of LQTS. This study aimed to characterize and quantify the contribution of common genetic variation to LQTS disease susceptibility. Methods: We conducted genome-wide association studies followed by transethnic meta-analysis in 1656 unrelated patients with LQTS of European or Japanese ancestry and 9890 controls to identify susceptibility single nucleotide polymorphisms. We estimated the common variant heritability of LQTS and tested the genetic correlation between LQTS susceptibility and other cardiac traits. Furthermore, we tested the aggregate effect of the 68 single nucleotide polymorphisms previously associated with the QT-interval in the general population using a polygenic risk score. Results: Genome-wide association analysis identified 3 loci associated with LQTS at genome-wide statistical significance (P<5x10(-8)) nearNOS1AP,KCNQ1, andKLF12, and 1 missense variant inKCNE1(p.Asp85Asn) at the suggestive threshold (P<10(-6)). Heritability analyses showed that approximate to 15% of variance in overall LQTS susceptibility was attributable to common genetic variation (h2SNP0.148; standard error 0.019). LQTS susceptibility showed a strong genome-wide genetic correlation with the QT-interval in the general population (r(g)=0.40;P=3.2x10(-3)). The polygenic risk score comprising common variants previously associated with the QT-interval in the general populati

Published
2020
Full Text
View/download PDF

20. Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand

Author

Makarawate, Pattarapong, Glinge, Charlotte, Khongphatthanayothin, Apichai, Walsh, Roddy, Mauleekoonphairoj, John, Amnueypol, Montawatt, Prechawat, Somchai, Wongcharoen, Wanwarang, Krittayaphong, Rungroj, Anannab, Alisara, Lichtner, Peter, Meitinger, Thomas, Tjong, Fleur V Y, Lieve, Krystien V V, Amin, Ahmad S, Sahasatas, Dujdao, Ngarmukos, Tachapong, Wichadakul, Duangdao, Payungporn, Sanchai, Sutjaporn, Boosamas, Wandee, Pharawee, Poovorawan, Yong, Tfelt-Hansen, Jacob, Tanck, Michael W T, Tadros, Rafik, Wilde, Arthur A M, Bezzina, Connie R, Veerakul, Gumpanart, Nademanee, Koonlawee, Makarawate, Pattarapong, Glinge, Charlotte, Khongphatthanayothin, Apichai, Walsh, Roddy, Mauleekoonphairoj, John, Amnueypol, Montawatt, Prechawat, Somchai, Wongcharoen, Wanwarang, Krittayaphong, Rungroj, Anannab, Alisara, Lichtner, Peter, Meitinger, Thomas, Tjong, Fleur V Y, Lieve, Krystien V V, Amin, Ahmad S, Sahasatas, Dujdao, Ngarmukos, Tachapong, Wichadakul, Duangdao, Payungporn, Sanchai, Sutjaporn, Boosamas, Wandee, Pharawee, Poovorawan, Yong, Tfelt-Hansen, Jacob, Tanck, Michael W T, Tadros, Rafik, Wilde, Arthur A M, Bezzina, Connie R, Veerakul, Gumpanart, and Nademanee, Koonlawee

Abstract

BACKGROUND: Mutations in SCN5A are rarely found in Thai patients with Brugada syndrome (BrS). Recent evidence suggested that common genetic variation may underlie BrS in a complex inheritance model.OBJECTIVE: To find common and rare/low frequency genetic variants predisposing to BrS in Thailand.METHODS: We conducted a genome-wide association study (GWAS) to explore the association of common variants in 154 Thai BrS cases and 432 controls. We sequenced SCN5A in 131 cases and 205 controls. Variants were classified according to current guidelines and case-control association testing was performed for rare and low frequency variants.RESULTS: Two loci were significantly associated with BrS. The first was near SCN5A/SCN10A (lead marker rs10428132; odds ratio [OR]2.4, P=3x10-10). The conditional analysis identified a novel independent signal in the same locus (rs6767797; OR2.3, P=2.7x10-10). The second locus was near HEY2 (lead marker rs3734634; OR2.5, P=7x10-9). Rare (MAF<0.0001) coding variants in SCN5A were found in 8 of the 131 cases (6.1% in cases versus 2.0% in controls, P=0.046, OR=3.3 [1.0-11.1]), but an enrichment of low frequency (MAF<0.001 and >0.0001) variants was also observed in cases, with one variant (SCN5A:p.Arg965Cys), detected in 4.6% of Thai BrS patients vs 0.5% in controls (P=0.015, OR=9.8[1.2-82.3]).CONCLUSIONS: The genetic basis of BrS in Thailand includes a wide spectrum of variant frequencies and effect sizes. As previously shown in European and Japanese populations, common variants near SCN5A and HEY2 are associated with BrS in the Thai population, confirming the trans-ethnic transferability of these two major BrS loci.

Published
2020

21. Biomarkers for the Discrimination of Acute Kawasaki Disease From Infections in Childhood

Author

Zandstra, Judith, van de Geer, Annemarie, Tanck, Michael W T, van Stijn-Bringas Dimitriades, Diana, Aarts, Cathelijn E M, Dietz, Sanne M, van Bruggen, Robin, Schweintzger, Nina A, Zenz, Werner, Emonts, Marieke, Zavadska, Dace, Pokorn, Marko, Usuf, Effua, Moll, Henriette A, Schlapbach, Luregn J; https://orcid.org/0000-0003-2281-2598, Carrol, Enitan D, Paulus, Stephane, Tsolia, Maria, Fink, Colin, Yeung, Shunmay, Shimizu, Chisato, Tremoulet, Adriana, Galassini, Rachel, Wright, Victoria J, Martinón-Torres, Federico, Herberg, Jethro, Burns, Jane, Levin, Michael, Kuijpers, Taco W, Zandstra, Judith, van de Geer, Annemarie, Tanck, Michael W T, van Stijn-Bringas Dimitriades, Diana, Aarts, Cathelijn E M, Dietz, Sanne M, van Bruggen, Robin, Schweintzger, Nina A, Zenz, Werner, Emonts, Marieke, Zavadska, Dace, Pokorn, Marko, Usuf, Effua, Moll, Henriette A, Schlapbach, Luregn J; https://orcid.org/0000-0003-2281-2598, Carrol, Enitan D, Paulus, Stephane, Tsolia, Maria, Fink, Colin, Yeung, Shunmay, Shimizu, Chisato, Tremoulet, Adriana, Galassini, Rachel, Wright, Victoria J, Martinón-Torres, Federico, Herberg, Jethro, Burns, Jane, Levin, Michael, and Kuijpers, Taco W

Abstract

Background: Kawasaki disease (KD) is a vasculitis of early childhood mimicking several infectious diseases. Differentiation between KD and infectious diseases is essential as KD's most important complication-the development of coronary artery aneurysms (CAA)-can be largely avoided by timely treatment with intravenous immunoglobulins (IVIG). Currently, KD diagnosis is only based on clinical criteria. The aim of this study was to evaluate whether routine C-reactive protein (CRP) and additional inflammatory parameters myeloid-related protein 8/14 (MRP8/14 or S100A8/9) and human neutrophil-derived elastase (HNE) could distinguish KD from infectious diseases. Methods and Results: The cross-sectional study included KD patients and children with proven infections as well as febrile controls. Patients were recruited between July 2006 and December 2018 in Europe and USA. MRP8/14, CRP, and HNE were assessed for their discriminatory ability by multiple logistic regression analysis with backward selection and receiver operator characteristic (ROC) curves. In the discovery cohort, the combination of MRP8/14+CRP discriminated KD patients (n = 48) from patients with infection (n = 105), with area under the ROC curve (AUC) of 0.88. The HNE values did not improve discrimination. The first validation cohort confirmed the predictive value of MRP8/14+CRP to discriminate acute KD patients (n = 26) from those with infections (n = 150), with an AUC of 0.78. The second validation cohort of acute KD patients (n = 25) and febrile controls (n = 50) showed an AUC of 0.72, which improved to 0.84 when HNE was included. Conclusion: When used in combination, the plasma markers MRP8/14, CRP, and HNE may assist in the discrimination of KD from both proven and suspected infection.

Published
2020

22. Myocardial Deformation in the Systemic Right Ventricle: Strain Imaging Improves Prediction of the Failing Heart

Author

Team Onderzoek, Cardiologie, Team Medisch, Circulatory Health, Woudstra, Odilia I, van Dissel, Alexandra C, van der Bom, Teun, de Bruin-Bon, Rianne H A C M, van Melle, Joost P, van Dijk, Arie P J, Vliegen, Hubert W, Mulder, Barbara J M, Tanck, Michael W T, Meijboom, Folkert J, Bouma, Berto J, Team Onderzoek, Cardiologie, Team Medisch, Circulatory Health, Woudstra, Odilia I, van Dissel, Alexandra C, van der Bom, Teun, de Bruin-Bon, Rianne H A C M, van Melle, Joost P, van Dijk, Arie P J, Vliegen, Hubert W, Mulder, Barbara J M, Tanck, Michael W T, Meijboom, Folkert J, and Bouma, Berto J

Published
2020

23. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Author

ZL Neuromusculaire Ziekten Medisch, Brain, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Circulatory Health, Genetica, UMC Utrecht, Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G, Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L, Mazzanti, Andrea, Beckmann, Britt M, Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D, Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A, Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M Ben, Weeke, Peter E, Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J, Bos, J Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G, Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A, Veldink, Jan H, van den Berg, Leonard H, Al-Chalabi, Ammar, Shaw, Christopher E, Shaw, Pamela J, Morrison, Karen E, Andersen, Peter M, Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C, Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D, Antzelevitch, Charles, Roden, Dan M, Saenen, Johan, Borggrefe, Martin, Odening, Katja E, Ellinor, Patrick T, Tfelt-Hansen, Jacob, Skinner, Jonathan R, van den Berg, Maarten P, Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R, Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G, Guicheney, Pascale, Tan, Hanno L, Newton-Cheh, Christopher, Ackerman, Michael J, Schwartz, Peter J, Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A, Tanck, Michael W T, Bezzina, Connie R, ZL Neuromusculaire Ziekten Medisch, Brain, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Circulatory Health, Genetica, UMC Utrecht, Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G, Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L, Mazzanti, Andrea, Beckmann, Britt M, Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D, Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A, Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M Ben, Weeke, Peter E, Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J, Bos, J Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G, Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A, Veldink, Jan H, van den Berg, Leonard H, Al-Chalabi, Ammar, Shaw, Christopher E, Shaw, Pamela J, Morrison, Karen E, Andersen, Peter M, Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C, Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D, Antzelevitch, Charles, Roden, Dan M, Saenen, Johan, Borggrefe, Martin, Odening, Katja E, Ellinor, Patrick T, Tfelt-Hansen, Jacob, Skinner, Jonathan R, van den Berg, Maarten P, Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R, Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G, Guicheney, Pascale, Tan, Hanno L, Newton-Cheh, Christopher, Ackerman, Michael J, Schwartz, Peter J, Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A, Tanck, Michael W T, and Bezzina, Connie R

Published
2020

24. Clinical Course Long After Atrial Switch: A Novel Risk Score for Major Clinical Events

Author

Woudstra, Odilia I., primary, Zandstra, Tjitske E., additional, Vogel, Rosanne F., additional, van Dijk, Arie P. J., additional, Vliegen, Hubert W., additional, Kiès, Philippine, additional, Jongbloed, Monique R. M., additional, Egorova, Anastasia D., additional, Doevendans, Pieter A. F. M., additional, Konings, Thelma C., additional, Mulder, Barbara J. M., additional, Tanck, Michael W. T., additional, Meijboom, Folkert J., additional, and Bouma, Berto J., additional

Published
2021
Full Text
View/download PDF

26. Chronically elevated branched chain amino acid levels are pro-arrhythmic.

Author

Portero, Vincent, Nicol, Thomas, Podliesna, Svitlana, Marchal, Gerard A, Baartscheer, Antonius, Casini, Simona, Tadros, Rafik, Treur, Jorien L, Tanck, Michael W T, Cox, I Jane, Probert, Fay, Hough, Tertius A, Falcone, Sara, Beekman, Leander, Müller-Nurasyid, Martina, Kastenmüller, Gabi, Gieger, Christian, Peters, Annette, Kääb, Stefan, and Sinner, Moritz F

Subjects
BRANCHED chain amino acids, AMINOTRANSFERASES, CARDIAC arrest, HEART failure, SUDDEN death, ARRHYTHMIA, NONSENSE mutation
Abstract

Aims Cardiac arrhythmias comprise a major health and economic burden and are associated with significant morbidity and mortality, including cardiac failure, stroke, and sudden cardiac death (SCD). Development of efficient preventive and therapeutic strategies is hampered by incomplete knowledge of disease mechanisms and pathways. Our aim is to identify novel mechanisms underlying cardiac arrhythmia and SCD using an unbiased approach. Methods and results We employed a phenotype-driven N -ethyl- N -nitrosourea mutagenesis screen and identified a mouse line with a high incidence of sudden death at young age (6–9 weeks) in the absence of prior symptoms. Affected mice were found to be homozygous for the nonsense mutation Bcat2 p.Q300*/p.Q300* in the Bcat2 gene encoding branched chain amino acid transaminase 2. At the age of 4–5 weeks, Bcat2 p.Q300*/p.Q300* mice displayed drastic increase of plasma levels of branch chain amino acids (BCAAs—leucine, isoleucine, valine) due to the incomplete catabolism of BCAAs, in addition to inducible arrhythmias ex vivo as well as cardiac conduction and repolarization disturbances. In line with these findings, plasma BCAA levels were positively correlated to electrocardiogram indices of conduction and repolarization in the German community-based KORA F4 Study. Isolated cardiomyocytes from Bcat2 p.Q300*/p.Q300* mice revealed action potential (AP) prolongation, pro-arrhythmic events (early and late afterdepolarizations, triggered APs), and dysregulated calcium homeostasis. Incubation of human pluripotent stem cell-derived cardiomyocytes with elevated concentration of BCAAs induced similar calcium dysregulation and pro-arrhythmic events which were prevented by rapamycin, demonstrating the crucial involvement of mTOR pathway activation. Conclusions Our findings identify for the first time a causative link between elevated BCAAs and arrhythmia, which has implications for arrhythmogenesis in conditions associated with BCAA metabolism dysregulation such as diabetes, metabolic syndrome, and heart failure. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

27. The GALANT trial: study protocol of a randomised placebo-controlled trial in patients with a 68Ga-DOTATATE PET-positive, clinically non-functioning pituitary macroadenoma on the effect of lanreotide on tumour size

Author

Boertien, Tessel M, primary, Drent, Madeleine L, additional, Booij, Jan, additional, Majoie, Charles B L M, additional, Stokkel, Marcel P M, additional, Hoogmoed, Jantien, additional, Pereira, Alberto, additional, Biermasz, Nienke R, additional, Simsek, Suat, additional, Groote Veldman, Ronald, additional, Tanck, Michael W T, additional, Fliers, Eric, additional, and Bisschop, Peter H, additional

Published
2020
Full Text
View/download PDF

28. Prevalence of ECGs Exceeding Thresholds for ST‐Segment–Elevation Myocardial Infarction in Apparently Healthy Individuals: The Role of Ethnicity

Author

ter Haar, C. Cato, primary, Kors, Jan A., additional, Peters, Ron J. G., additional, Tanck, Michael W. T., additional, Snijder, Marieke B., additional, Maan, Arie C., additional, Swenne, Cees A., additional, van den Born, Bert‐Jan H., additional, de Jong, Jonas S. S. G., additional, Macfarlane, Peter W., additional, and Postema, Pieter G., additional

Published
2020
Full Text
View/download PDF

29. Correction: Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure

Author

Glinge, Charlotte, primary, Engstrøm, Thomas, additional, Midgley, Sofie E., additional, Tanck, Michael W. T., additional, Madsen, Jeppe Ekstrand Halkjær, additional, Pedersen, Frants, additional, Jacobsen, Mia Ravn, additional, Lodder, Elisabeth M., additional, Al-Hussainy, Nour R., additional, Stampe, Niels Kjær, additional, Trebbien, Ramona, additional, Køber, Lars, additional, Gerds, Thomas, additional, Torp-Pedersen, Christian, additional, Fischer, Thea Kølsen, additional, Bezzina, Connie R., additional, Tfelt-Hansen, Jacob, additional, and Jabbari, Reza, additional

Published
2020
Full Text
View/download PDF

30. Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure

Author

Glinge, Charlotte, primary, Engstrøm, Thomas, additional, Midgley, Sofie E., additional, Tanck, Michael W. T., additional, Madsen, Jeppe Ekstrand Halkjær, additional, Pedersen, Frants, additional, Ravn Jacobsen, Mia, additional, Lodder, Elisabeth M., additional, Al-Hussainy, Nour R., additional, Kjær Stampe, Niels, additional, Trebbien, Ramona, additional, Køber, Lars, additional, Gerds, Thomas, additional, Torp-Pedersen, Christian, additional, Kølsen Fischer, Thea, additional, Bezzina, Connie R., additional, Tfelt-Hansen, Jacob, additional, and Jabbari, Reza, additional

Published
2020
Full Text
View/download PDF

33. Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events A GENIUS-CHD Study of Individual Participant Data

Author

Patel, Riyaz S., Schmidt, Amand F., Tragante, Vinicius, McCubrey, Raymond O., Holmes, Michael, V, Howe, Laurence J., Direk, Kenan, Åkerblom, Axel, Leander, Karin, Virani, Salim S., Kaminski, Karol A., Muehlschlegel, Jochen D., Dube, Marie-Pierre, Allayee, Hooman, Almgren, Peter, Alver, Maris, Baranova, Ekaterina, V, Behlouli, Hassan, Boeckx, Bram, Braund, Peter S., Breitling, Lutz P., Delgado, Graciela, Duarte, Nubia E., Dufresne, Line, Eriksson, Niclas, Foco, Luisa, Gijsberts, Crystel M., Gong, Yan, Hartiala, Jaana, Heydarpour, Mahyar, Hubacek, Jaroslav A., Kleber, Marcus, Kofink, Daniel, Kuukasjarvi, Pekka, Lee, Vei-Vei, Leiherer, Andreas, Lenzini, Petra A., Levin, Daniel, Lyytikainen, Leo-Pekka, Martinelli, Nicola, Mons, Ute, Nelson, Christopher P., Nikus, Kjell, Pilbrow, Anna P., Ploski, Rafal, Sun, Yan, V, Tanck, Michael W. T., Tang, W. H. Wilson, Trompet, Stella, van der Laan, Sander W., van Setten, Jessica, Vilmundarson, Ragnar O., Anselmi, Chiara Viviani, Vlachopoulou, Efthymia, Boerwinkle, Eric, Briguori, Carlo, Carlquist, John F., Carruthers, Kathryn F., Casu, Gavino, Deanfield, John, Deloukas, Panos, Dudbridge, Frank, Fitzpatrick, Natalie, Gigante, Bruna, James, Stefan, Lokki, Marja-Liisa, Lotufo, Paulo A., Marziliano, Nicola, Mordi, Ify R., Muhlestein, Joseph B., Cheh, Chris Newton, Pitha, Jan, Saely, Christoph H., Samman-Tahhan, Ayman, Sandesara, Pratik B., Teren, Andrej, Timmis, Adam, Van de Werf, Frans, Wauters, Els, Wilde, Arthur A. M., Ford, Ian, Stott, David J., Algra, Ale, Andreassi, Maria G., Ardissino, Diego, Arsenault, Benoit J., Ballantyne, Christie M., Bergmeijer, Thomas O., Bezzina, Connie R., Body, Simon C., Bogaty, Peter, de Borst, Gert J., Brenner, Hermann, Burkhardt, Ralph, Carpeggiani, Clara, Condorelli, Gianluigi, Cooper-DeHoff, Rhonda M., Cresci, Sharon, de Faire, Ulf, Doughty, Robert N., Drexel, Heinz, Engert, James C., Fox, Keith A. A., Girelli, Domenico, Hagström, Emil, Hazen, Stanley L., Held, Claes, Hemingway, Harry, Hoefer, Imo E., Hovingh, G. Kees, Johnson, Julie A., De Jong, Pim A., Jukema, J. Wouter, Kaczor, Marcin P., Kahonen, Mika, Kettner, Jiri, Kiliszek, Marek, Klungel, Olaf H., Lagerqvist, Bo, Lambrechts, Diether, Laurikka, Jari O., Lehtimaki, Terho, Lindholm, Daniel, Mahmoodi, Bakhtawar K., Maitland-van der Zee, Anke H., McPherson, Ruth, Melander, Olle, Metspalu, Andres, Pepinski, Witold, Olivieri, Oliviero, Opolski, Grzegorz, Palmer, Colin N., Pasterkamp, Gerard, Pepine, Carl J., Pereira, Alexandre C., Note, Louise, Quyyumi, Arshed A., Richards, A. Mark, Sanak, Marek, Scholz, Markus, Siegbahn, Agneta, Sinisalo, Juha, Smith, J. Gustav, Spertus, John A., Stewart, Alexandre F. R., Szczeklik, Wojciech, Szpakowicz, Anna, ten Berg, Jurrien M., Thanassoulis, George, Thieiy, Joachim, van der Graaf, Yolanda, Visseren, Frank L. J., Waltenberger, Johannes, Van der Harst, Pim, Tardif, Jean-Claude, Sattar, Naveed, Lang, Chim C., Pare, Guillaume, Brophy, James M., Anderson, Jeffrey L., Maerz, Winfried, Wallentin, Lars, Cameron, Vicky A., Horne, Benjamin D., Samani, Nilesh J., Hingorani, Aroon D., and Asselbergs, Folkert W.

Subjects
Genetics & Heredity, RISK, Kardiologi, Science & Technology, Cardiac & Cardiovascular Systems, VARIANTS, RECURRENT MYOCARDIAL-INFARCTION, myocardial infarction, risk factor, BIAS, Cardiovascular System & Cardiology, LOCUS, Cardiac and Cardiovascular Systems, cardiovascular diseases, chromosome, genetic, variation, Medical Genetics, Life Sciences & Biomedicine, secondary prevention, Medicinsk genetik
Abstract

BACKGROUND: Genetic variation at chromosome 9p21 is a recognized risk factor for coronary heart disease (CHD). However, its effect on disease progression and subsequent events is unclear, raising questions about its value for stratification of residual risk. METHODS: A variant at chromosome 9p21 (rs1333049) was tested for association with subsequent events during follow-up in 103 357 Europeans with established CHD at baseline from the GENIUS-CHD (Genetics of Subsequent Coronary Heart Disease) Consortium (73.1% male, mean age 62.9 years). The primary outcome, subsequent CHD death or myocardial infarction (CHD death/myocardial infarction), occurred in 13 040 of the 93 115 participants with available outcome data. Effect estimates were compared with case/control risk obtained from the CARDIoGRAMplusC4D consortium (Coronary Artery Disease Genome-wide Replication and Meta-analysis [CARDIoGRAM] plus The Coronary Artery Disease [C4D] Genetics) including 47 222 CHD cases and 122 264 controls free of CHD. RESULTS: Meta-analyses revealed no significant association between chromosome 9p21 and the primary outcome of CHD death/myocardial infarction among those with established CHD at baseline (GENIUS-CHD odds ratio, 1.02; 95% CI, 0.99-1.05). This contrasted with a strong association in CARDIoGRAMPlusC4D odds ratio 1.20; 95% CI, 1.18-1.22; P for interaction

Published
2019

35. Subsequent Event Risk in Individuals With Established Coronary Heart Disease : Design and Rationale of the GENIUS-CHD Consortium

Author

Patel, Riyaz S., Tragante, Vinicius, Schmidt, Amand F., McCubrey, Raymond O., Holmes, Michael, V, Howe, Laurence J., Direk, Kenan, Åkerblom, Axel, Leander, Karin, Virani, Salim S., Kaminski, Karol A., Muehlschlegel, Jochen D., Allayee, Hooman, Almgren, Peter, Alver, Maris, Baranova, Ekaterina, V, Behloui, Hassan, Boeckx, Bram, Braund, Peter S., Breitling, Lutz P., Delgado, Gradela, Duarte, Nubia E., Dube, Marie-Pierre, Dufresne, Line, Eriksson, Niclas, Foco, Luisa, Scholz, Markus, Gijsberts, Crystel M., Glinge, Charlotte, Gong, Yan, Hartiala, Jaana, Heydarpour, Mahyar, Hubacek, Jaroslav A., Kleber, Marcus, Kofink, Daniel, Kotti, Salma, Kuukasjarvi, Pekka, Lee, Vei-Vei, Leiherer, Andreas, Lenzini, Petra A., Levin, Daniel, Lyytikainen, Leo-Pekka, Martinelli, Nicola, Mons, Ute, Nelson, Christopher P., Nikus, Kjell, Pilbrow, Anna P., Ploski, Rafal, Sun, Yan, V, Tanck, Michael W. T., Tang, W. H. Wilson, Trompet, Stella, van der Laan, Sander W., Van Setten, Jessica, Vilmundarson, Ragnar O., Anselmi, Chiara Viviani, Vlachopoulou, Efthymia, Al Ali, Lawien, Boerwinkle, Eric, Briguori, Carlo, Carlquist, John F., Carruthers, Kathryn F., Casu, Gavino, Deanfield, John, Deloukas, Panos, Dudbridge, Frank, Engstrom, Thomas, Fitzpatrick, Natalie, Fox, Kim, Gigante, Bruna, James, Stefan, Lokki, Marja-Liisa, Lotufo, Paulo A., Marziliano, Nicola, Mordi, Ify R., Muhlestein, Joseph B., Newton-Cheh, Christopher, Pitha, Jan, Saely, Christoph H., Samman-Tahhan, Ayman, Sandesara, Pratik B., Teren, Andrej, Timmis, Adam, Van de Werf, Frans, Wauters, Els, Wilde, Arthur A. M., Ford, Ian, Stott, David J., Algra, Ale, Andreassi, Maria G., Ardissino, Diego, Arsenault, Benoit J., Ballantyne, Christie M., Bergmeijer, Thomas O., Bezzina, Connie R., Body, Simon C., Boersma, Eric H., Bogaty, Peter, Bots, Michiel L., Brenner, Hermann, Brugts, Jasper J., Burkhardt, Ralph, Carpeggiani, Clara, Condorelli, Gianluigi, Cooper-DeHoff, Rhonda M., Cresci, Sharon, Danchin, Nicolas, de Faire, Ulf, Doughty, Robert N., Drexel, Heinz, Engert, James C., Fox, Keith A. A., Girelli, Domenico, Grobbee, Diederick E., Hagström, Emil, Hazen, Stanley L., Held, Claes, Hemingway, Harry, Hoefer, Imo E., Hovingh, G. Kees, Jabbari, Reza, Johnson, Julie A., Jukema, J. Wouter, Kaczor, Marcin P., Kahonen, Mika, Kettner, Jiri, Kiliszek, Marek, Klungel, Olaf H., Lagerqvist, Bo, Lambrechts, Diether, Laurikka, Jari O., Lehtimaki, Terho, Lindholm, Daniel, Mahmoodi, B. K., Maitland-van der Zee, Anke H., McPherson, Ruth, Melander, Olle, Metspalu, Andres, Niemcunowicz-Janica, Anna, Olivieri, Oliviero, Opolski, Grzegorz, Palmer, Colin N., Pasterkamp, Gerard, Pepine, Carl J., Pereira, Alexandre C., Pilote, Louise, Quyyumi, Arshed A., Richards, A. Mark, Sanak, Marek, Siegbahn, Agneta, Simon, Tabassome, Sinisalo, Juha, Smith, J. Gustav, Spertus, John A., Stender, Steen, Stewart, Alexandre F. R., Szczeklik, Wojciech, Szpakowicz, Anna, Tardif, Jean-Claude, ten Berg, Jurrien M., Tfelt-Hansen, Jacob, Thanassoulis, George, Thiery, Joachim, Torp-Pedersen, Christian, van der Graaf, Yolanda, Visseren, Frank L. J., Waltenberger, Johannes, Weeke, Peter E., Van der Harst, Pim, Lang, Chim C., Sattar, Naveed, Cameron, Vicky A., Anderson, Jeffrey L., Brophy, James M., Pare, Guillaume, Horne, Benjamin D., Marz, Winfried, Wallentin, Lars, Samani, Nilesh J., Hingorani, Aroon D., Asselbergs, Folkert W., Patel, Riyaz S., Tragante, Vinicius, Schmidt, Amand F., McCubrey, Raymond O., Holmes, Michael, V, Howe, Laurence J., Direk, Kenan, Åkerblom, Axel, Leander, Karin, Virani, Salim S., Kaminski, Karol A., Muehlschlegel, Jochen D., Allayee, Hooman, Almgren, Peter, Alver, Maris, Baranova, Ekaterina, V, Behloui, Hassan, Boeckx, Bram, Braund, Peter S., Breitling, Lutz P., Delgado, Gradela, Duarte, Nubia E., Dube, Marie-Pierre, Dufresne, Line, Eriksson, Niclas, Foco, Luisa, Scholz, Markus, Gijsberts, Crystel M., Glinge, Charlotte, Gong, Yan, Hartiala, Jaana, Heydarpour, Mahyar, Hubacek, Jaroslav A., Kleber, Marcus, Kofink, Daniel, Kotti, Salma, Kuukasjarvi, Pekka, Lee, Vei-Vei, Leiherer, Andreas, Lenzini, Petra A., Levin, Daniel, Lyytikainen, Leo-Pekka, Martinelli, Nicola, Mons, Ute, Nelson, Christopher P., Nikus, Kjell, Pilbrow, Anna P., Ploski, Rafal, Sun, Yan, V, Tanck, Michael W. T., Tang, W. H. Wilson, Trompet, Stella, van der Laan, Sander W., Van Setten, Jessica, Vilmundarson, Ragnar O., Anselmi, Chiara Viviani, Vlachopoulou, Efthymia, Al Ali, Lawien, Boerwinkle, Eric, Briguori, Carlo, Carlquist, John F., Carruthers, Kathryn F., Casu, Gavino, Deanfield, John, Deloukas, Panos, Dudbridge, Frank, Engstrom, Thomas, Fitzpatrick, Natalie, Fox, Kim, Gigante, Bruna, James, Stefan, Lokki, Marja-Liisa, Lotufo, Paulo A., Marziliano, Nicola, Mordi, Ify R., Muhlestein, Joseph B., Newton-Cheh, Christopher, Pitha, Jan, Saely, Christoph H., Samman-Tahhan, Ayman, Sandesara, Pratik B., Teren, Andrej, Timmis, Adam, Van de Werf, Frans, Wauters, Els, Wilde, Arthur A. M., Ford, Ian, Stott, David J., Algra, Ale, Andreassi, Maria G., Ardissino, Diego, Arsenault, Benoit J., Ballantyne, Christie M., Bergmeijer, Thomas O., Bezzina, Connie R., Body, Simon C., Boersma, Eric H., Bogaty, Peter, Bots, Michiel L., Brenner, Hermann, Brugts, Jasper J., Burkhardt, Ralph, Carpeggiani, Clara, Condorelli, Gianluigi, Cooper-DeHoff, Rhonda M., Cresci, Sharon, Danchin, Nicolas, de Faire, Ulf, Doughty, Robert N., Drexel, Heinz, Engert, James C., Fox, Keith A. A., Girelli, Domenico, Grobbee, Diederick E., Hagström, Emil, Hazen, Stanley L., Held, Claes, Hemingway, Harry, Hoefer, Imo E., Hovingh, G. Kees, Jabbari, Reza, Johnson, Julie A., Jukema, J. Wouter, Kaczor, Marcin P., Kahonen, Mika, Kettner, Jiri, Kiliszek, Marek, Klungel, Olaf H., Lagerqvist, Bo, Lambrechts, Diether, Laurikka, Jari O., Lehtimaki, Terho, Lindholm, Daniel, Mahmoodi, B. K., Maitland-van der Zee, Anke H., McPherson, Ruth, Melander, Olle, Metspalu, Andres, Niemcunowicz-Janica, Anna, Olivieri, Oliviero, Opolski, Grzegorz, Palmer, Colin N., Pasterkamp, Gerard, Pepine, Carl J., Pereira, Alexandre C., Pilote, Louise, Quyyumi, Arshed A., Richards, A. Mark, Sanak, Marek, Siegbahn, Agneta, Simon, Tabassome, Sinisalo, Juha, Smith, J. Gustav, Spertus, John A., Stender, Steen, Stewart, Alexandre F. R., Szczeklik, Wojciech, Szpakowicz, Anna, Tardif, Jean-Claude, ten Berg, Jurrien M., Tfelt-Hansen, Jacob, Thanassoulis, George, Thiery, Joachim, Torp-Pedersen, Christian, van der Graaf, Yolanda, Visseren, Frank L. J., Waltenberger, Johannes, Weeke, Peter E., Van der Harst, Pim, Lang, Chim C., Sattar, Naveed, Cameron, Vicky A., Anderson, Jeffrey L., Brophy, James M., Pare, Guillaume, Horne, Benjamin D., Marz, Winfried, Wallentin, Lars, Samani, Nilesh J., Hingorani, Aroon D., and Asselbergs, Folkert W.

Abstract

BACKGROUND: The Genetics of Subsequent Coronary Heart Disease (GENIUS-CHD) consortium was established to facilitate discovery and validation of genetic variants and biomarkers for risk of subsequent CHD events, in individuals with established CHD. METHODS: The consortium currently includes 57 studies from 18 countries, recruiting 185 614 participants with either acute coronary syndrome, stable CHD, or a mixture of both at baseline. All studies collected biological samples and followed-up study participants prospectively for subsequent events. RESULTS: Enrollment into the individual studies took place between 1985 to present day with a duration of follow-up ranging from 9 months to 15 years. Within each study, participants with CHD are predominantly of self-reported European descent (38%-100%), mostly male (44%-91%) with mean ages at recruitment ranging from 40 to 75 years. Initial feasibility analyses, using a federated analysis approach, yielded expected associations between age (hazard ratio, 1.15; 95% CI, 1.14-1.16) per 5-year increase, male sex (hazard ratio, 1.17; 95% CI, 1.13-1.21) and smoking (hazard ratio, 1.43; 95% CI, 1.35-1.51) with risk of subsequent CHD death or myocardial infarction and differing associations with other individual and composite cardiovascular endpoints. CONCLUSIONS: GENIUS-CHD is a global collaboration seeking to elucidate genetic and nongenetic determinants of subsequent event risk in individuals with established CHD, to improve residual risk prediction and identify novel drug targets for secondary prevention. Initial analyses demonstrate the feasibility and reliability of a federated analysis approach. The consortium now plans to initiate and test novel hypotheses as well as supporting replication and validation analyses for other investigators.

Published
2019
Full Text
View/download PDF

36. Heritability in genetic heart disease : the role of genetic background

Author

Jansweijer, Joeri A., van Spaendonck-Zwarts, Karin Y., Tanck, Michael W. T., van Tintelen, J. Peter, Christiaans, Imke, van der Smagt, Jasper, Vermeer, Alexa, Bos, J. Martijn, Moss, Arthur J., Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R., van den Berg, Maarten, Wilde, Arthur, Pinto, Yigal M., Jansweijer, Joeri A., van Spaendonck-Zwarts, Karin Y., Tanck, Michael W. T., van Tintelen, J. Peter, Christiaans, Imke, van der Smagt, Jasper, Vermeer, Alexa, Bos, J. Martijn, Moss, Arthur J., Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R., van den Berg, Maarten, Wilde, Arthur, and Pinto, Yigal M.

Abstract

Background: Mutations in genes encoding ion channels or sarcomeric proteins are an important cause of hereditary cardiac disease. However, the severity of the resultant disease varies considerably even among those with an identical mutation. Such clinical variation is often thought to be explained largely by differences in genetic background or ‘modifier genes’. We aimed to test the prediction that identical genetic backgrounds result in largely similar clinical expression of a cardiac disease causing mutation, by studying the clinical expression of mutations causing cardiac disease in monozygotic twins. Methods: We compared first available clinical information on 46 monozygotic twin pairs and 59 control pairs that had either a hereditary cardiomyopathy or channelopathy. Results: Despite limited power of this study, we found significant heritability for corrected QT interval (QTc) in long QT syndrome (LQTS). We could not detect significant heritability for structural traits, but found a significant environmental effect on thickness of the interventricular septum in hypertrophic cardiomyopathy. Conclusions: Our study confirms previously found robust heritability for electrical traits like QTc in LQTS, and adds information on low or lacking heritability for structural traits in heritable cardiomyopathies. This may steer the search for genetic modifiers in heritable cardiac disease.

Published
2019
Full Text
View/download PDF

37. Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events

Author

Patel, Riyaz S, Schmidt, Amand F, Tragante, Vinicius, McCubrey, Raymond O, Holmes, Michael V, Howe, Laurence J, Direk, Kenan, Åkerblom, Axel, Leander, Karin, Virani, Salim S, Kaminski, Karol A, Muehlschlegel, Jochen D, Dubé, Marie-Pierre, Allayee, Hooman, Almgren, Peter, Alver, Maris, Baranova, Ekaterina V, Behlouli, Hassan, Boeckx, Bram, Braund, Peter S, Breitling, Lutz P, Delgado, Graciela, Duarte, Nubia E, Dufresne, Line, Eriksson, Niclas, Foco, Luisa, Gijsberts, Crystel M, Gong, Yan, Hartiala, Jaana, Heydarpour, Mahyar, Hubacek, Jaroslav A, Kleber, Marcus, Kofink, Daniel, Kuukasjärvi, Pekka, Lee, Vei-Vei, Leiherer, Andreas, Lenzini, Petra A, Levin, Daniel, Lyytikäinen, Leo-Pekka, Martinelli, Nicola, Mons, Ute, Nelson, Christopher P, Nikus, Kjell, Pilbrow, Anna P, Ploski, Rafal, Sun, Yan V, Tanck, Michael W T, Tang, W H Wilson, Klungel, Olaf H, Maitland-van der Zee, Anke H, Patel, Riyaz S, Schmidt, Amand F, Tragante, Vinicius, McCubrey, Raymond O, Holmes, Michael V, Howe, Laurence J, Direk, Kenan, Åkerblom, Axel, Leander, Karin, Virani, Salim S, Kaminski, Karol A, Muehlschlegel, Jochen D, Dubé, Marie-Pierre, Allayee, Hooman, Almgren, Peter, Alver, Maris, Baranova, Ekaterina V, Behlouli, Hassan, Boeckx, Bram, Braund, Peter S, Breitling, Lutz P, Delgado, Graciela, Duarte, Nubia E, Dufresne, Line, Eriksson, Niclas, Foco, Luisa, Gijsberts, Crystel M, Gong, Yan, Hartiala, Jaana, Heydarpour, Mahyar, Hubacek, Jaroslav A, Kleber, Marcus, Kofink, Daniel, Kuukasjärvi, Pekka, Lee, Vei-Vei, Leiherer, Andreas, Lenzini, Petra A, Levin, Daniel, Lyytikäinen, Leo-Pekka, Martinelli, Nicola, Mons, Ute, Nelson, Christopher P, Nikus, Kjell, Pilbrow, Anna P, Ploski, Rafal, Sun, Yan V, Tanck, Michael W T, Tang, W H Wilson, Klungel, Olaf H, and Maitland-van der Zee, Anke H

Published
2019

38. Heritability in genetic heart disease:the role of genetic background

Author

Jansweijer, Joeri A, van Spaendonck-Zwarts, Karin Y, Tanck, Michael W T, van Tintelen, J Peter, Christiaans, Imke, van der Smagt, Jasper, Vermeer, Alexa, Bos, J Martijn, Moss, Arthur J, Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R, van den Berg, Maarten, Wilde, Arthur, Pinto, Yigal M, Jansweijer, Joeri A, van Spaendonck-Zwarts, Karin Y, Tanck, Michael W T, van Tintelen, J Peter, Christiaans, Imke, van der Smagt, Jasper, Vermeer, Alexa, Bos, J Martijn, Moss, Arthur J, Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R, van den Berg, Maarten, Wilde, Arthur, and Pinto, Yigal M

Abstract

Background: Mutations in genes encoding ion channels or sarcomeric proteins are an important cause of hereditary cardiac disease. However, the severity of the resultant disease varies considerably even among those with an identical mutation. Such clinical variation is often thought to be explained largely by differences in genetic background or 'modifier genes'. We aimed to test the prediction that identical genetic backgrounds result in largely similar clinical expression of a cardiac disease causing mutation, by studying the clinical expression of mutations causing cardiac disease in monozygotic twins.Methods: We compared first available clinical information on 46 monozygotic twin pairs and 59 control pairs that had either a hereditary cardiomyopathy or channelopathy.Results: Despite limited power of this study, we found significant heritability for corrected QT interval (QTc) in long QT syndrome (LQTS). We could not detect significant heritability for structural traits, but found a significant environmental effect on thickness of the interventricular septum in hypertrophic cardiomyopathy.Conclusions: Our study confirms previously found robust heritability for electrical traits like QTc in LQTS, and adds information on low or lacking heritability for structural traits in heritable cardiomyopathies. This may steer the search for genetic modifiers in heritable cardiac disease.

Published
2019

39. Subsequent Event Risk in Individuals with Established Coronary Heart Disease:Design and Rationale of the GENIUS-CHD Consortium

Author

Patel, Riyaz, Tragante, Vinicius, Schmidt, Amand F, McCubrey, Raymond O, Holmes, Michael V, Howe, Laurence J, Direk, Kenan, Åkerblom, Axel, Leander, Karin, Virani, Salim S, Kaminski, Karol A, Muehlschlegel, Jochen D, Allayee, Hooman, Almgren, Peter, Alver, Maris, Baranova, Ekaterina V, Behlouli, Hassan, Boeckx, Bram, Braund, Peter S, Breitling, Lutz P, Delgado, Graciela, Duarte, Nubia E, Dubé, Marie-Pierre, Dufresne, Line, Eriksson, Niclas, Foco, Luisa, Scholz, Markus, Gijsberts, Crystel M, Glinge, Charlotte, Gong, Yan, Hartiala, Jaana, Heydarpour, Mahyar, Hubacek, Jaroslav A, Kleber, Marcus, Kofink, Daniel, Kotti, Salma, Kuukasjärvi, Pekka, Lee, Vei-Vei, Leiherer, Andreas, Lenzini, Petra A, Levin, Daniel, Lyytikäinen, Leo-Pekka, Martinelli, Nicola, Mons, Ute, Nelson, Christopher P, Nikus, Kjell, Pilbrow, Anna P, Ploski, Rafal, Sun, Yan V, Tanck, Michael W T, Tang, W H Wilson, Trompet, Stella, van der Laan, Sander W, Van Setten, Jessica, Vilmundarson, Ragnar O, Viviani Anselmi, Chiara, Vlachopoulou, Efthymia, Al Ali, Lawien, Boerwinkle, Eric, Briguori, Carlo, Carlquist, John F, Carruthers, Kathryn F, Casu, Gavino, Deanfield, John, Deloukas, Panos, Dudbridge, Frank, Engström, Thomas, Fitzpatrick, Natalie, Fox, Kim, Gigante, Bruna, James, Stefan, Lokki, Marja-Liisa, Lotufo, Paulo A, Marziliano, Nicola, Mordi, Ify R, Muhlestein, Joseph B, Newton-Cheh, Christopher, Pitha, Jan, Saely, Christoph H, Samman-Tahhan, Ayman, Sandesara, Pratik B, Teren, Andrej, Timmis, Adam, Van de Werf, Frans, Wauters, Els, Wilde, Arthur A M, Ford, Ian, Stott, David J, Algra, Ale, Andreassi, Maria G, Ardissino, Diego, Arsenault, Benoit J, Ballantyne, Christie M, Bergmeijer, Thomas O, Bezzina, Connie R, Body, Simon C, Boersma, Eric H, Bogaty, Peter, Bots, Michiel, Brenner, Hermann, Brugts, Jasper J, Burkhardt, Ralph, Carpeggiani, Clara, Condorelli, Gianluigi, Cooper-DeHoff, Rhonda M, Cresci, Sharon, Danchin, Nicolas, de Faire, Ulf, Doughty, Robert N, Drexel, Heinz, Engert, James C, Fox, Keith A A, Girelli, Domenico, Grobbee, Diederick E, Hagström, Emil, Hazen, Stanley L, Held, Claes, Hemingway, Harry, Hoefer, Imo E, Hovingh, G Kees, Jabbari, Reza, Johnson, Julie A, Jukema, J Wouter, Kaczor, Marcin P, Kähönen, Mika, Kettner, Jiri, Kiliszek, Marek, Klungel, Olaf H, Lagerqvist, Bo, Lambrechts, Diether, Laurikka, Jari O, Lehtimäki, Terho, Lindholm, Daniel, Mahmoodi, B K, Maitland-van der Zee, Anke H, McPherson, Ruth, Melander, Olle, Metspalu, Andres, Niemcunowicz-Janica, Anna, Olivieri, Oliviero, Opolski, Grzegorz, Palmer, Colin N, Pasterkamp, Gerard, Pepine, Carl J, Pereira, Alexandre C, Pilote, Louise, Quyyumi, Arshed A, Richards, A Mark, Sanak, Marek, Siegbahn, Agneta, Simon, Tabassome, Sinisalo, Juha, Smith, J Gustav, Spertus, John A, Stender, Steen, Stewart, Alexandre F R, Szczeklik, Wojciech, Szpakowicz, Anna, Tardif, Jean-Claude, Ten Berg, Jurriën M, Tfelt-Hansen, Jacob, Thanassoulis, George, Thiery, Joachim, Torp-Pedersen, Christian, van der Graaf, Yolanda, Visseren, Frank L J, Waltenberger, Johannes, Weeke, Peter E, Van der Harst, Pim, Lang, Chim C, Sattar, Naveed, Cameron, Vicky A, Anderson, Jeffrey L, Brophy, James M, Paré, Guillaume, Horne, Benjamin D, März, Winfried, Wallentin, Lars, Samani, Nilesh J, Hingorani, Aroon D, Asselbergs, Folkert W, Patel, Riyaz, Tragante, Vinicius, Schmidt, Amand F, McCubrey, Raymond O, Holmes, Michael V, Howe, Laurence J, Direk, Kenan, Åkerblom, Axel, Leander, Karin, Virani, Salim S, Kaminski, Karol A, Muehlschlegel, Jochen D, Allayee, Hooman, Almgren, Peter, Alver, Maris, Baranova, Ekaterina V, Behlouli, Hassan, Boeckx, Bram, Braund, Peter S, Breitling, Lutz P, Delgado, Graciela, Duarte, Nubia E, Dubé, Marie-Pierre, Dufresne, Line, Eriksson, Niclas, Foco, Luisa, Scholz, Markus, Gijsberts, Crystel M, Glinge, Charlotte, Gong, Yan, Hartiala, Jaana, Heydarpour, Mahyar, Hubacek, Jaroslav A, Kleber, Marcus, Kofink, Daniel, Kotti, Salma, Kuukasjärvi, Pekka, Lee, Vei-Vei, Leiherer, Andreas, Lenzini, Petra A, Levin, Daniel, Lyytikäinen, Leo-Pekka, Martinelli, Nicola, Mons, Ute, Nelson, Christopher P, Nikus, Kjell, Pilbrow, Anna P, Ploski, Rafal, Sun, Yan V, Tanck, Michael W T, Tang, W H Wilson, Trompet, Stella, van der Laan, Sander W, Van Setten, Jessica, Vilmundarson, Ragnar O, Viviani Anselmi, Chiara, Vlachopoulou, Efthymia, Al Ali, Lawien, Boerwinkle, Eric, Briguori, Carlo, Carlquist, John F, Carruthers, Kathryn F, Casu, Gavino, Deanfield, John, Deloukas, Panos, Dudbridge, Frank, Engström, Thomas, Fitzpatrick, Natalie, Fox, Kim, Gigante, Bruna, James, Stefan, Lokki, Marja-Liisa, Lotufo, Paulo A, Marziliano, Nicola, Mordi, Ify R, Muhlestein, Joseph B, Newton-Cheh, Christopher, Pitha, Jan, Saely, Christoph H, Samman-Tahhan, Ayman, Sandesara, Pratik B, Teren, Andrej, Timmis, Adam, Van de Werf, Frans, Wauters, Els, Wilde, Arthur A M, Ford, Ian, Stott, David J, Algra, Ale, Andreassi, Maria G, Ardissino, Diego, Arsenault, Benoit J, Ballantyne, Christie M, Bergmeijer, Thomas O, Bezzina, Connie R, Body, Simon C, Boersma, Eric H, Bogaty, Peter, Bots, Michiel, Brenner, Hermann, Brugts, Jasper J, Burkhardt, Ralph, Carpeggiani, Clara, Condorelli, Gianluigi, Cooper-DeHoff, Rhonda M, Cresci, Sharon, Danchin, Nicolas, de Faire, Ulf, Doughty, Robert N, Drexel, Heinz, Engert, James C, Fox, Keith A A, Girelli, Domenico, Grobbee, Diederick E, Hagström, Emil, Hazen, Stanley L, Held, Claes, Hemingway, Harry, Hoefer, Imo E, Hovingh, G Kees, Jabbari, Reza, Johnson, Julie A, Jukema, J Wouter, Kaczor, Marcin P, Kähönen, Mika, Kettner, Jiri, Kiliszek, Marek, Klungel, Olaf H, Lagerqvist, Bo, Lambrechts, Diether, Laurikka, Jari O, Lehtimäki, Terho, Lindholm, Daniel, Mahmoodi, B K, Maitland-van der Zee, Anke H, McPherson, Ruth, Melander, Olle, Metspalu, Andres, Niemcunowicz-Janica, Anna, Olivieri, Oliviero, Opolski, Grzegorz, Palmer, Colin N, Pasterkamp, Gerard, Pepine, Carl J, Pereira, Alexandre C, Pilote, Louise, Quyyumi, Arshed A, Richards, A Mark, Sanak, Marek, Siegbahn, Agneta, Simon, Tabassome, Sinisalo, Juha, Smith, J Gustav, Spertus, John A, Stender, Steen, Stewart, Alexandre F R, Szczeklik, Wojciech, Szpakowicz, Anna, Tardif, Jean-Claude, Ten Berg, Jurriën M, Tfelt-Hansen, Jacob, Thanassoulis, George, Thiery, Joachim, Torp-Pedersen, Christian, van der Graaf, Yolanda, Visseren, Frank L J, Waltenberger, Johannes, Weeke, Peter E, Van der Harst, Pim, Lang, Chim C, Sattar, Naveed, Cameron, Vicky A, Anderson, Jeffrey L, Brophy, James M, Paré, Guillaume, Horne, Benjamin D, März, Winfried, Wallentin, Lars, Samani, Nilesh J, Hingorani, Aroon D, and Asselbergs, Folkert W

Abstract

BACKGROUND: The "GENetIcs of sUbSequent Coronary Heart Disease" (GENIUS-CHD) consortium was established to facilitate discovery and validation of genetic variants and biomarkers for risk of subsequent CHD events, in individuals with established CHD.METHODS: The consortium currently includes 57 studies from 18 countries, recruiting 185,614 participants with either acute coronary syndrome, stable CHD or a mixture of both at baseline. All studies collected biological samples and followed-up study participants prospectively for subsequent events.RESULTS: Enrollment into the individual studies took place between 1985 to present day with duration of follow up ranging from 9 months to 15 years. Within each study, participants with CHD are predominantly of self-reported European descent (38%-100%), mostly male (44%-91%) with mean ages at recruitment ranging from 40 to 75 years. Initial feasibility analyses, using a federated analysis approach, yielded expected associations between age (HR 1.15 95% CI 1.14-1.16) per 5-year increase, male sex (HR 1.17, 95% CI 1.13-1.21) and smoking (HR 1.43, 95% CI 1.35-1.51) with risk of subsequent CHD death or myocardial infarction, and differing associations with other individual and composite cardiovascular endpoints.CONCLUSIONS: GENIUS-CHD is a global collaboration seeking to elucidate genetic and non-genetic determinants of subsequent event risk in individuals with established CHD, in order to improve residual risk prediction and identify novel drug targets for secondary prevention. Initial analyses demonstrate the feasibility and reliability of a federated analysis approach. The consortium now plans to initiate and test novel hypotheses as well as supporting replication and validation analyses for other investigators.

Published
2019

40. Incidence and Risk Factors for Invasive Pneumococcal Disease and Community-acquired Pneumonia in Human Immunodeficiency Virus–Infected Individuals in a High-income Setting

Author

Garcia Garrido, Hannah M, primary, Mak, Anne M R, primary, Wit, Ferdinand W N M, primary, Wong, Gino W M, primary, Knol, Mirjam J, primary, Vollaard, Albert, primary, Tanck, Michael W T, primary, Van Der Ende, Arie, primary, Grobusch, Martin P, primary, and Goorhuis, Abraham, primary

Published
2019
Full Text
View/download PDF

41. Heritability in genetic heart disease: the role of genetic background

Author

Jansweijer, Joeri A, primary, van Spaendonck-Zwarts, Karin Y, additional, Tanck, Michael W T, additional, van Tintelen, J Peter, additional, Christiaans, Imke, additional, van der Smagt, Jasper J, additional, Vermeer, Alexa M C, additional, Bos, J Martijn, additional, Moss, Arthur J, additional, Swan, Heikki, additional, Priori, Sylvia G, additional, Rydberg, Annika, additional, Tfelt-Hansen, Jacob, additional, Ackerman, Michael J, additional, Olivotto, Iacopo, additional, Charron, Philippe, additional, Gimeno, Juan R, additional, van den Berg, Maarten P, additional, Wilde, Arthur AM, additional, and Pinto, Yigal M, additional

Published
2019
Full Text
View/download PDF

42. A common co-morbiditymodulates disease expression and treatment efficacy in inherited cardiac sodiumchannelopathy

Author

Rivaud, Mathilde R, Jansen, John A, Postema, Pieter G, Nannenberg, Eline A, Mizusawa, Yuka, van der Nagel, Roel, Wolswinkel, Rianne, van der Made, Ingeborg, Marchal, Gerard A, Rajamani, Sridharan, Belardinelli, Luiz, van Tintelen, J Peter, Tanck, Michael W T, van der Wal, Allard C, de Bakker, Jacques M T, van Rijen, Harold V, Creemers, Esther E, Wilde, Arthur A M, van den Berg, Maarten P, van Veen, Toon A B, Bezzina, Connie R, Remme, Carol Ann, Rivaud, Mathilde R, Jansen, John A, Postema, Pieter G, Nannenberg, Eline A, Mizusawa, Yuka, van der Nagel, Roel, Wolswinkel, Rianne, van der Made, Ingeborg, Marchal, Gerard A, Rajamani, Sridharan, Belardinelli, Luiz, van Tintelen, J Peter, Tanck, Michael W T, van der Wal, Allard C, de Bakker, Jacques M T, van Rijen, Harold V, Creemers, Esther E, Wilde, Arthur A M, van den Berg, Maarten P, van Veen, Toon A B, Bezzina, Connie R, and Remme, Carol Ann

Published
2018

43. A common co-morbiditymodulates disease expression and treatment efficacy in inherited cardiac sodiumchannelopathy

Author

Medische Fysiologie, BMS Algemeen, Circulatory Health, Conductiegroep, Rivaud, Mathilde R, Jansen, John A, Postema, Pieter G, Nannenberg, Eline A, Mizusawa, Yuka, van der Nagel, Roel, Wolswinkel, Rianne, van der Made, Ingeborg, Marchal, Gerard A, Rajamani, Sridharan, Belardinelli, Luiz, van Tintelen, J Peter, Tanck, Michael W T, van der Wal, Allard C, de Bakker, Jacques M T, van Rijen, Harold V, Creemers, Esther E, Wilde, Arthur A M, van den Berg, Maarten P, van Veen, Toon A B, Bezzina, Connie R, Remme, Carol Ann, Medische Fysiologie, BMS Algemeen, Circulatory Health, Conductiegroep, Rivaud, Mathilde R, Jansen, John A, Postema, Pieter G, Nannenberg, Eline A, Mizusawa, Yuka, van der Nagel, Roel, Wolswinkel, Rianne, van der Made, Ingeborg, Marchal, Gerard A, Rajamani, Sridharan, Belardinelli, Luiz, van Tintelen, J Peter, Tanck, Michael W T, van der Wal, Allard C, de Bakker, Jacques M T, van Rijen, Harold V, Creemers, Esther E, Wilde, Arthur A M, van den Berg, Maarten P, van Veen, Toon A B, Bezzina, Connie R, and Remme, Carol Ann

Published
2018

44. Incidence and Risk Factors for Invasive Pneumococcal Disease and Community-acquired Pneumonia in Human Immunodeficiency Virus–Infected Individuals in a High-income Setting.

Author

Garrido, Hannah M Garcia, Mak, Anne M R, Wit, Ferdinand W N M, Wong, Gino W M, Knol, Mirjam J, Vollaard, Albert, Tanck, Michael W T, Ende, Arie Van Der, Grobusch, Martin P, and Goorhuis, Abraham

Subjects
AGE distribution, ANTIVIRAL agents, CONFIDENCE intervals, HIV infections, HIV-positive persons, INCOME, OBSTRUCTIVE lung diseases, SMOKING, STREPTOCOCCAL diseases, SUBSTANCE abuse, COMMUNITY-acquired pneumonia, DISEASE incidence, CASE-control method, DESCRIPTIVE statistics, CD4 lymphocyte count, MIXED infections, DISEASE risk factors
Abstract

Background Although people living with human immunodeficiency virus (PLWH) are at increased risk of invasive pneumococcal disease (IPD) and community-acquired pneumonia (CAP), it is unclear whether this remains the case in the setting of early initiation of combination antiretroviral therapy (cART), at high CD4 cell counts. This is important, as pneumococcal vaccination coverage in PLWH is low in Europe and the United States, despite longstanding international recommendations. Methods We identified all CAP and IPD cases between 2008 and 2017 in a cohort of PLWH in a Dutch HIV referral center. We calculated incidence rates stratified by CD4 count and cART status and conducted a case-control study to identify risk factors for CAP in PLWH receiving cART. Results Incidence rates of IPD and CAP in PLWH were 111 and 1529 per 100 000 patient-years of follow-up (PYFU). Although IPD and CAP occurred more frequently in patients with CD4 counts <500 cells/μL (incidence rate ratio [IRR], 6.1 [95% confidence interval, 2.2–17] and IRR, 2.4 [95% confidence interval, 1.9–3.0]), the incidence rate in patients with CD4 counts >500 cells/μL remained higher compared with the general population (946 vs 188 per 100 000 PYFU). All IPD isolates were vaccine serotypes. Risk factors for CAP were older age, CD4 counts <500 cells/μL, smoking, drug use, and chronic obstructive pulmonary disease. Conclusions The incidence of IPD and CAP among PLWH remains higher compared with the general population, even in those who are virally suppressed and have high CD4 counts. With all serotyped IPD isolates covered by pneumococcal vaccines, our study provides additional argumentation against the poor current adherence to international recommendations to vaccinate PLWH. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

45. A common co-morbidity modulates disease expression and treatment efficacy in inherited cardiac sodium channelopathy

Author

Rivaud, Mathilde R, primary, Jansen, John A, additional, Postema, Pieter G, additional, Nannenberg, Eline A, additional, Mizusawa, Yuka, additional, van der Nagel, Roel, additional, Wolswinkel, Rianne, additional, van der Made, Ingeborg, additional, Marchal, Gerard A, additional, Rajamani, Sridharan, additional, Belardinelli, Luiz, additional, van Tintelen, J Peter, additional, Tanck, Michael W T, additional, van der Wal, Allard C, additional, de Bakker, Jacques M T, additional, van Rijen, Harold V, additional, Creemers, Esther E, additional, Wilde, Arthur A M, additional, van den Berg, Maarten P, additional, van Veen, Toon A B, additional, Bezzina, Connie R, additional, and Remme, Carol Ann, additional

Published
2018
Full Text
View/download PDF

46. SNP rs688 within the low‐density lipoprotein receptor (LDL‐R) gene associates with HCV susceptibility.

Author

Steba, Gaby S., Koekkoek, Sylvie M., Berkhout, Ben, Molenkamp, Richard, Schinkel, Janke, Prins, Maria, Vanhommerig, Joost W., Paxton, William A., Tanck, Michael W. T., van der Meer, Jan T. M., Kwa, David, Brinkman, Kees, and Pollakis, Georgios

Subjects
OCCLUDINS, CLAUDINS, LIPOPROTEIN receptors
Abstract

Background & Aims: Despite high‐risk behaviour, 10%‐20% of HCV multiple exposed individuals remain uninfected (MEU), whilst the remainder become infected (MEI). We hypothesize that host factors play a role in HCV susceptibility. We aimed to identify polymorphisms in host genes that encode for proteins involved in viral entry: CD81, Scavenger receptor 1 (SR‐1), Low‐density lipoprotein receptor (LDL‐R), Claudin‐1 (CLDN1), Occludin (OCLN) and Niemann‐Pick C1–like 1 (NPC1L1). Methods: Multiple exposed infected and MEU from two observational cohorts were selected. From the MSM study of acute infection with HCV (MOSAIC), HIV‐1 infected MEU cases (n = 30) and HIV‐1 infected MEI controls (n = 32) were selected based on reported high‐risk behaviour. From the Amsterdam Cohorts Studies (ACS) injecting drug users (IDU) cohort, MEU cases (n = 40) and MEI controls (n = 22) were selected who injected drugs for ≥2 years, in the nineties, when HCV incidence was high. Selected single nucleotide polymorphisms (SNPs) were determined by sequencing or SNP assays. Results: No associations were found for SNPs within genes coding for CD81, SR‐1, Claudin‐1 or Occludin between the MEU and MEI individuals from either cohort. We did observe a significant association for rs688 within the LDL‐R gene with HCV infection (OR: 0.41 P = 0.001), however, LDL cholesterol levels did not vary between individuals carrying the differential SNPs. Additionally, a marginal significant effect was found for rs217434 and rs2072183 (OR: 2.07 P = 0.032 and OR: 1.76 P = 0.039, respectively) within NPC1L1. Conclusions: Our results demonstrate that the rs688 SNP within the LDL‐R gene associates with HCV susceptibility through mucosal as well as intravenous exposure. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

47. Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Author

Kuilenburg, André B P van, Meijer, Judith, Tanck, Michael W T, Dobritzsch, Doreen, Zoetekouw, Lida, Dekkers, Lois-Lee, Roelofsen, Jeroen, Meinsma, Rutger, Wymenga, Machteld, Kulik, Wim, Büchel, Barbara, Hennekam, Raoul C M, Largiadèr, Carlo R, Kuilenburg, André B P van, Meijer, Judith, Tanck, Michael W T, Dobritzsch, Doreen, Zoetekouw, Lida, Dekkers, Lois-Lee, Roelofsen, Jeroen, Meinsma, Rutger, Wymenga, Machteld, Kulik, Wim, Büchel, Barbara, Hennekam, Raoul C M, and Largiadèr, Carlo R

Abstract

Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of the pyrimidine bases uracil, thymine and the antineoplastic agent 5-fluorouracil. Genetic variations in the gene encoding DPD (DPYD) have emerged as predictive risk alleles for 5FU-associated toxicity. Here we report an in-depth analysis of genetic variants in DPYD and their consequences for DPD activity and pyrimidine metabolites in 100 Dutch healthy volunteers. 34 SNPs were detected in DPYD and 15 SNPs were associated with altered plasma concentrations of pyrimidine metabolites. DPD activity was significantly associated with the plasma concentrations of uracil, the presence of a specific DPYD mutation (c.1905+1G>A) and the combined presence of three risk variants in DPYD (c.1905+1G>A, c.1129-5923C>G, c.2846A>T), but not with an altered uracil/dihydrouracil (U/UH2) ratio. Various haplotypes were associated with different DPD activities (haplotype D3, a decreased DPD activity; haplotype F2, an increased DPD activity). Functional analysis of eight recombinant mutant DPD enzymes showed a reduced DPD activity, ranging from 35% to 84% of the wild-type enzyme. Analysis of a DPD homology model indicated that the structural effect of the novel p.G401R mutation is most likely minor. The clinical relevance of the p.D949V mutation was demonstrated in a cancer patient heterozygous for the c.2846A>T mutation and a novel nonsense mutation c.1681C>T (p.R561X), experiencing severe grade IV toxicity. Our studies showed that the endogenous levels of uracil and the U/UH2 ratio are poor predictors of an impaired DPD activity. Loading studies with uracil to identify patients with a DPD deficiency warrants further investigation.

Published
2016
Full Text
View/download PDF

48. Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration

Author

Baas, Dominique C., Ho, Lintje, Tanck, Michael W. T., Fritsche, Lars G., Merriam, Joanna E., van Het Slot, Ruben, Koeleman, Bobby P. C., Gorgels, Theo G. M. F., van Duijn, Cornelia M., Uitterlinden, André G., de Jong, Paulus T. V. M., Hofman, Albert, ten Brink, Jacoline B., Vingerling, Johannes R., Klaver, Caroline C. W., Dean, Michael, Weber, Bernhard H. F., Allikmets, Rando, Hageman, Gregory S., Bergen, Arthur A. B., Amsterdam Public Health, Epidemiology and Data Science, Other departments, Ophthalmology, Amsterdam Neuroscience, and Human Genetics

Subjects
eye diseases
Abstract

Purpose: Age-related macular degeneration (AMD) is a major cause of blindness in older adults and has a genetically complex background. This study examines the potential association between single nucleotide polymorphisms (SNPs) in the glucose transporter 1 (SLC2A1) gene and AMD. SLC2A1 regulates the bioavailability of glucose in the retinal pigment epithelium (RPE), which might influence oxidative stress-mediated AMD pathology. Methods: Twenty-two SNPs spanning the SLC2A1 gene were genotyped in 375 cases and 199 controls from an initial discovery cohort (the Amsterdam-Rotterdam-Netherlands study). Replication testing was performed in The Rotterdam Study (the Netherlands) and study populations from Wurzburg (Germany), the Age Related Eye Disease Study (AREDS; United States), Columbia University (United States), and Iowa University (United States). Subsequently, a meta-analysis of SNP association was performed. Results: In the discovery cohort, significant genotypic association between three SNPs (rs3754219, rs4660687, and rs841853) and AMD was found. Replication in five large independent (Caucasian) cohorts (4,860 cases and 4,004 controls) did not yield consistent association results. The genotype frequencies for these SNPs were significantly different for the controls and/or cases among the six individual populations. Meta-analysis revealed significant heterogeneity of effect between the studies. Conclusions: No overall association between SLC2A1 SNPs and AMD was demonstrated. Since the genotype frequencies for the three SLC2A1 SNPs were significantly different for the controls and/or cases between the six cohorts, this study corroborates previous evidence that population dependent genetic risk heterogeneity in AMD exists

Published
2012

49. Association between thrombin-activatable fibrinolysis inhibitor (TAFI) and clinical outcome in patients with unstable angina pectoris

Author

Brouwers, Geert-Jan, Leebeek, Frank W. G., Tanck, Michael W. T., Wouter Jukema, J., Kluft, Cornelis, de Maat, Moniek P. M., Amsterdam Public Health, and Epidemiology and Data Science

Abstract

Decrease of fibrinolytic potential is considered to be a risk factor for arterial thrombosis. The recently described thrombin-activatable fibrinolysis inhibitor (TAFI) attenuates fibrinolysis by cleaving of the C-terminal lysine residues from fibrin, thereby inhibiting tPA mediated plasminogen activation. The role of plasma TAFI antigen (Ag) levels and gene polymorphisms in arterial thrombosis is still not elucidated. In this prospective study, the association between plasma TAFI Ag levels and the TAFI gene polymorphisms, Ala147Thr, Thr325Ile and -438A/G, with refractory unstable angina pectoris (UAP) was determined. The study population consisted of 209 patients with UAP of whom 76 were refractory and 133 non-refractory to medical treatment. In the same study population the contribution of these polymorphisms to plasma TAFI Ag levels was determined. Plasma TAFI Ag levels were significantly higher in non-refractory patients compared to refractory patients (geometric mean 114.4 and 105.6 U/dl respectively, p=0.042). Plasma TAFI Ag levels in the lowest quartile resulted in a 2.6 fold (95% confidence interval 1.2-5.9) increased risk for refractory UAP compared to plasma TAFI Ag levels in the upper quartile. The three studied TAFI polymorphisms had an independent and additive effect on plasma TAFI Ag levels. However, no significant association between the individual TAFI polymorphisms and refractiveness was observed. In conclusion, in this study population plasma TAFI Ag levels are significantly correlated with refractiveness in patients with UAP. Furthermore, all three polymorphisms contribute independently to plasma TAFI Ag levels, but not to refractiveness

Published
2003

50. Haplotype analysis of the CETP gene: not TaqIB, but the closely linked -629C-->A polymorphism and a novel promoter variant are independently associated with CETP concentration

Author

Klerkx, Anke H. E. M., Tanck, Michael W. T., Kastelein, John J. P., Molhuizen, Henri O. F., Jukema, J. Wouter, Zwinderman, Aeilko H., Kuivenhoven, Jan Albert, Amsterdam Public Health, Epidemiology and Data Science, Amsterdam Cardiovascular Sciences, Vascular Medicine, and Experimental Vascular Medicine

Subjects
carbohydrates (lipids), lipids (amino acids, peptides, and proteins)
Abstract

The TaqIB polymorphism in intron 1 of the cholesteryl ester transfer protein (CETP) gene is associated with plasma CETP concentration, high-density lipoprotein cholesterol (HDL-C) and coronary artery disease (CAD). These associations are generally thought to arise from linkage disequilibrium between TaqIB and (an)other functional polymorphism(s). To identify putative functional sites, we investigated phenotypic associations of TaqIB and four tightly linked polymorphisms (novel -2708G-->A and +784CCC-->A, and previously identified -971G-->A and -629C-->A) in 709 males with CAD (REGRESS). In addition to genotype analyses, a novel method to estimate haplotype effects was used to examine the individual and joint effects of these DNA variants on CETP concentration and HDL-C. All polymorphisms were associated with CETP concentration and HDL-C, except for -971 with HDL-C. Stepwise regression and haplotype analyses indicated that only -629 was independently associated with HDL-C. Similar analyses additionally indicated that -2708 and -629 were independently associated with CETP concentration, whereby the most frequent alleles acted in a cumulative manner. Nonetheless, detailed haplotype analysis revealed that a 3-polymorphism haplotype model consisting of -2708, -629 and -971 explained the variation in CETP concentration best. The involvement of -971 could be due to interaction effects that were observed between -971 and both -629 (P

Published
2003

Catalog

Books, media, physical & digital resources
See catalog results