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2. Real-time identification and visualization of Egyptian blue using modified night vision goggles

Author

Nicola, Marco, Gobetto, Roberto, Bazzacco, Alessandro, Anselmi, Chiara, Ferraris, Enrico, Russo, Alfonsina, Masic, Admir, Sgamellotti, Antonio, Nicola, Marco, Gobetto, Roberto, Bazzacco, Alessandro, Anselmi, Chiara, Ferraris, Enrico, Russo, Alfonsina, Masic, Admir, and Sgamellotti, Antonio

Abstract

The possibility to use light in the visible spectrum to induce near-infrared luminescence in some materials, particularly Egyptian blue and related pigments, offers a significant advantage in terms of their detection. Since 2008, this property has been exploited to reveal the presence of those pigments even in tiny amounts on ancient and decayed surfaces, using a technical-photography method. This paper presents a new type of imaging device that enables real-time, easy, and inexpensive identification and mapping of Egyptian blue and related materials. The potential of the new tool is demonstrated by its effectiveness in detecting Egyptian blue within some prestigious sites: (a) Egyptian findings at Museo Egizio, Turin; (b) underground Roman frescoes at Domus Aurea, Rome; and (c) Renaissance frescoes by Raphael, Triumph of Galatea and Loggia of Cupid and Psyche, at Villa Farnesina, Rome. The device is based on night vision technology and allows an unprecedented fast, versatile, and user-friendly approach. It is employable by professionals including archeologists, conservators, and conservation scientists, as well as by untrained individuals such as students or tourists at museums and sites. The overall aim is not to replace existing photographic techniques but to develop a tool that enables rapid preliminary recognition, useful for planning the work to be carried out with conventional methods. The ability to immediately track Egyptian blue and related pigments, through real-time vision, photos, and videos, also provides a new kind of immersive experience (Blue Vision) and can foster the modern use of these materials in innovative applications and future technologies.

Published
2024

5. Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes

Author

Rivera, Natalia V, Carreras-Torres, Robert, Roncarati, Roberta, Viviani-Anselmi, Chiara, De Micco, Francesca, Mezzelani, Alessandra, Koch, Werner, Hoppmann, Petra, Kastrati, Adnan, Stewart, Alexandre FR, Chen, Li, Roberts, Robert, Karssen, Lennart C, Amin, Najaf, Trimarco, Valentina, Izzo, Raffaele, Iaccarino, Guido, Condorelli, Gerolama, Puca, Annibale A, Pagnotta, Paolo, Airoldi, Flavio, Trimarco, Bruno, van Duijn, Cornelia M, Condorelli, Gianluigi, and Briguori, Carlo

Abstract

Abstract Background The 9p21.3 locus is strongly associated with the risk of coronary artery disease (CAD) and with type 2 diabetes (T2D). We investigated the association of 9p21.3 variants with severity of CAD (defined by the number of vessel diseased [VD]) in the presence and absence of T2D. Methods We tested 11 9p21.3-variants for association in a white Italian study (N = 2,908), and carried out replication in 2 independent white populations, a German study (N = 2,028) and a Canadian Study (N=950). SNP association and permutation analyses were conducted. Results We identified two 9p21.3-variants, rs4977574 (P < 4×10-4) and rs2383207 (P < 1.5×10-3) that were associated with severity of CAD in subjects without T2D. Association of rs4977574 with severity of CAD was confirmed in the Canadian Study. Results from subgroup analysis among patients with T2D showed an interaction between rs10738610 and T2D with P = 4.82×10-2. Further investigation showed that rs10738610 (P < 1.99×10-2) was found to be significantly associated with severity of CAD in subjects with T2D. Conclusions The 9p21.3 locus is significantly associated with severity of CAD. The number of associations of 9p21.3 variants with severity of CAD is variable to the presence and absence of T2D. In a CAD-susceptible region of 115 kb, there is only one variant associated with the severity of coronary vessel disease in the presence of type 2 diabetes.

Published
2013

9. Two distinct evolutionary conserved neural degeneration pathways characterized in a colonial chordate

Author

Anselmi, Chiara, primary, Kowarsky, Mark, additional, Gasparini, Fabio, additional, Caicci, Federico, additional, Ishizuka, Katherine J., additional, Palmeri, Karla J., additional, Raveh, Tal, additional, Sinha, Rahul, additional, Neff, Norma, additional, Quake, Stephen R., additional, Weissman, Irving L., additional, Voskoboynik, Ayelet, additional, and Manni, Lucia, additional

Published
2022
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15. Stem Cells and Innate Immunity in Aquatic Invertebrates: Bridging Two Seemingly Disparate Disciplines for New Discoveries in Biology

Author

Ballarin, Loriano, primary, Karahan, Arzu, additional, Salvetti, Alessandra, additional, Rossi, Leonardo, additional, Manni, Lucia, additional, Rinkevich, Baruch, additional, Rosner, Amalia, additional, Voskoboynik, Ayelet, additional, Rosental, Benyamin, additional, Canesi, Laura, additional, Anselmi, Chiara, additional, Pinsino, Annalisa, additional, Tohumcu, Begüm Ece, additional, Jemec Kokalj, Anita, additional, Dolar, Andraž, additional, Novak, Sara, additional, Sugni, Michela, additional, Corsi, Ilaria, additional, and Drobne, Damjana, additional

Published
2021
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16. Myocardial hypoxic stress mediates functional cardiac extracellular vesicle release

Author

Anselmo, Achille, primary, Frank, Derk, additional, Papa, Laura, additional, Viviani Anselmi, Chiara, additional, Di Pasquale, Elisa, additional, Mazzola, Marta, additional, Panico, Cristina, additional, Clemente, Francesca, additional, Soldani, Cristiana, additional, Pagiatakis, Christina, additional, Hinkel, Rabea, additional, Thalmann, Ruth, additional, Kozlik-Feldmann, Reiner, additional, Miragoli, Michele, additional, Carullo, Pierluigi, additional, Vacchiano, Marco, additional, Chaves-Sanjuan, Antonio, additional, Santo, Nadia, additional, Losi, Maria Angela, additional, Ferrari, Matteo Carlo, additional, Puca, Annibale Alessandro, additional, Christiansen, Vincent, additional, Seoudy, Hatim, additional, Freitag-Wolf, Sandra, additional, Frey, Norbert, additional, Dempfle, Astrid, additional, Mercola, Mark, additional, Esposito, Giovanni, additional, Briguori, Carlo, additional, Kupatt, Christian, additional, and Condorelli, Gianluigi, additional

Published
2021
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17. Sexual and asexual development: two distinct programs producing the same tunicate

Author

Kowarsky, Mark, primary, Anselmi, Chiara, additional, Hotta, Kohji, additional, Burighel, Paolo, additional, Zaniolo, Giovanna, additional, Caicci, Federico, additional, Rosental, Benyamin, additional, Neff, Norma F., additional, Ishizuka, Katherine J., additional, Palmeri, Karla J., additional, Okamoto, Jennifer, additional, Gordon, Tal, additional, Weissman, Irving L., additional, Quake, Stephen R., additional, Manni, Lucia, additional, and Voskoboynik, Ayelet, additional

Published
2021
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18. 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

19. Subsequent Event Risk in Individuals With Established Coronary Heart Disease

Author

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

Subjects
myocardial infarction, [SDV]Life Sciences [q-bio], genetics, prognosis, coronary artery disease, secondary prevention, ComputingMilieux_MISCELLANEOUS
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

20. 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 WT, Tang, WH Wilson, Trompet, Stella, van der Laan, Sander W, van Setten, Jessica, Vilmundarson, Ragnar O, Viviani Anselmi, Chiara, 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, Newton Cheh, Chris, Pitha, Jan, Saely, Christoph H, Samman-Tahhan, Ayman, Sandesara, Pratik B, Teren, Andrej, Timmis, Adam, Van de Werf, Frans, Wauters, Els, Wilde, Arthur AM, 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 AA, 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, Kähönen, Mika, Kettner, Jiri, Kiliszek, Marek, Klungel, Olaf H, Lagerqvist, Bo, Lambrechts, Diether, Laurikka, Jari O, Lehtimäki, 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, Pilote, Louise, Quyyumi, Arshed A, Richards, A Mark, Sanak, Marek, Scholz, Markus, Siegbahn, Agneta, Sinisalo, Juha, Smith, J Gustav, Spertus, John A, Stewart, Alexandre FR, Szczeklik, Wojciech, Szpakowicz, Anna, Ten Berg, Jurriën M, Thanassoulis, George, Thiery, Joachim, van der Graaf, Yolanda, Visseren, Frank LJ, Waltenberger, Johannes, CARDIoGRAMPlusC4D Consortium, Van der Harst, Pim, Tardif, Jean-Claude, Sattar, Naveed, Lang, Chim C, Pare, Guillaume, Brophy, James M, Anderson, Jeffrey L, März, Winfried, Wallentin, Lars, Cameron, Vicky A, Horne, Benjamin D, Samani, Nilesh J, Hingorani, Aroon D, and Asselbergs, Folkert W

Subjects
cardiovascular diseases
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

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

Subjects
myocardial infarction, genetics, prognosis, coronary artery disease, secondary prevention
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

22. 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
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23. A Notch-regulated proliferative stem cell zone in the developing spinal cord is an ancestral vertebrate trait

Author

Lara-Ramirez, Ricardo, Perez-Gonzalez, Carlos, Anselmi, Chiara, Patthey, Cedric, Shimeld, Sebastian M., Lara-Ramirez, Ricardo, Perez-Gonzalez, Carlos, Anselmi, Chiara, Patthey, Cedric, and Shimeld, Sebastian M.

Abstract

Vertebrates have evolved the most sophisticated nervous systems we know. These differ from the nervous systems of invertebrates in several ways, including the evolution of new cell types, and the emergence and elaboration of patterning mechanisms to organise cells in time and space. Vertebrates also generally have many more cells in their central nervous systems than invertebrates, and an increase in neural cell number may have contributed to the sophisticated anatomy of the brain and spinal cord. Here, we study how increased cell number evolved in the vertebrate central nervous system, investigating the regulation of cell proliferation in the lamprey spinal cord. Markers of proliferation show that a ventricular progenitor zone is found throughout the lamprey spinal cord. We show that inhibition of Notch signalling disrupts the maintenance of this zone. When Notch is blocked, progenitor cells differentiate precociously, the proliferative ventricular zone is lost and differentiation markers become expressed throughout the spinal cord. Comparison with other chordates suggests that the emergence of a persistent Notch-regulated proliferative progenitor zone was a crucial step for the evolution of vertebrate spinal cord complexity.

Published
2019
Full Text
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24. Subsequent Event Risk in Individuals with Established Coronary Heart Disease: Design and Rationale of the GENIUS-CHD Consortium

Author

Onderzoek Precision medicine, Circulatory Health, UMC Utrecht, Aios en Stafsecr. Cardiologie, Experimentele Afd. Cardiologie 1, Apotheek Klinische Farmacie Kinderen, CDL Onderzoek Pasterkamp, Cardiovasculaire Epi Team 6, ZL Cerebrovasculaire Ziekten Medisch, Brain, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Cardiovasculaire Epi Team 5, Cardiovasculaire Epi Team 9, CDL Arcadia, Global Health, JC onderzoeksprogramma Methodologie, dLAB Afdelingen, Device, Interne Geneeskunde Vasculaire, Team Medisch, 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, 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, Engstrøm, 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., 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., Pare, Guillaume, Horne, Benjamin D., März, Winfried, Wallentin, Lars, Samani, Nilesh J., Hingorani, Aroon D., Asselbergs, Folkert W., Onderzoek Precision medicine, Circulatory Health, UMC Utrecht, Aios en Stafsecr. Cardiologie, Experimentele Afd. Cardiologie 1, Apotheek Klinische Farmacie Kinderen, CDL Onderzoek Pasterkamp, Cardiovasculaire Epi Team 6, ZL Cerebrovasculaire Ziekten Medisch, Brain, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Cardiovasculaire Epi Team 5, Cardiovasculaire Epi Team 9, CDL Arcadia, Global Health, JC onderzoeksprogramma Methodologie, dLAB Afdelingen, Device, Interne Geneeskunde Vasculaire, Team Medisch, 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, 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, Engstrøm, 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., 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., Pare, Guillaume, Horne, Benjamin D., März, Winfried, Wallentin, Lars, Samani, Nilesh J., Hingorani, Aroon D., and Asselbergs, Folkert W.

Published
2019

25. 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

26. Cyclical neurogenesis and neurodegeneration in the colonial tunicate Botryllus schlosseri

Author

Anselmi, Chiara

Subjects
neurogenesis, neurodegeneration, tunicates, chordates, brain, nervous system, behavioral test, sensory cells, neurodegenerative disease, evo-devo, Alzheimer's disease, sexual and asexual reproduction, Settore BIO/17 - Istologia, tunicates, brain, nervous system, neurodegeneration, Settore BIO/05 - Zoologia, evo-devo, Alzheimer's disease, BIO/17 Istologia, BIO/06 Anatomia comparata e citologia, BIO/05 Zoologia, neurogenesis, Settore BIO/06 - Anatomia Comparata e Citologia, sensory cells, neurodegenerative disease, sexual and asexual reproduction, behavioral test, chordates
Abstract

In this work, we studied the nervous and sensory system of the colonial ascidian Botryllus schlosseri during the development of embryos, buds, and in adult individuals belonging to young and old colonies. B. schlosseri is a colonial ascidian in which individuals (blastozooids) are organized in star-shaped systems. In a colony, sexual and asexual reproductions are coordinated and cyclical. Moreover, three generations of zooids coexist: adults (filter-feeding individuals), their buds (primary buds), and the budlets (secondary buds) produced by buds. Cyclically, during a phase called takeover, adult zooids are reabsorbed by the colony and are replaced in physiological activities by their buds that become adults. Cuncurrently, budlets mature into buds and produce a new generation of budlets. We first reviewed historical studies concerning B. schlosseri with the intent of characterizing the colony life cycle and bud development. We then compared nervous system formation in two different developmental pathways, embryogenesis and blastogenesis. Since B. schlosseri has internal fertilization and development, we developed a method for culturing embryos in vitro. Using a combination of in vivo, confocal, histological observations, and 3D reconstructions based on serial sections, we described the embryonic development and drafted a timetable. Next, we sequenced transcriptomes of embryos and buds at several stages and illuminated the strict temporal relationship between morphogenetic events and the expression pattern of genes associated with the nervous system during the formation of the larval brain, its degeneration at metamorphosis, the adult brain formation in embryo and bud, and its degeneration at takeover. We also studied the nervous system in adult individuals belonging to colonies of different ages. We observed that the number of brain cells changes throughout the adult zooid life following a specific trend. Transmission electron microscopy and TUNEL assays on adult brains showed that apoptosis is involved in neurodegeneration and the number of immunocytes contacting or infiltrating the brain increase in number during the adult life. Changes in brain cell number parallel changes in sensory cell number. We developed two novel behavioural experiments for B. schlosseri, which showed that zooid ability to respond to mechanical stimuli parallels changes in the number of brain and sensory cells. Then we compared adult individuals belonging to young and old colonies and found that aging influences both nervous system morphology and behaviour. We analysed differentially expressed genes in brains of individuals belonging to young and old colonies and found that the old colonies exhibit a gene pattern associated with several human neurodegenerative diseases, such as the Alzheimer’s disease. Finally, we studied, the coronal organ, a mechanoreceptor located on the tentacles, in the oral siphon. We analysed its cytodifferentiation during asexual reproduction and we documented the mechanosensorial impairment caused by gentamicin at morphological and behavioural level. In mammals gentamicin can destroy both hair cells and their innervating neurons. The pre-treatment with fenofibrate, a gentamicin protector, followed by a treatment with gentamicin, resulted in no significant effect on animal behaviour. These results support the hypothesis of homology between vertebrate hair cells and tunicate coronal sensory cells. In conclusion, the research presented here shows that B. schlosseri can be considered a useful model species for analysing the development of the central nervous system and sensory system, as well as its degeneration as caused by drugs, metamorphosis, takeover and aging. Additionally, the species’ different developmental pathways allow for interesting evolutionary comparisons, at both the morphological and molecular level, that can help improve scientific understanding of the origin of the animal phenotype.

Published
2018

29. Impact of Selection Bias on Estimation of Subsequent Event Risk

Author

Hu, Yi Juan, Schmidt, Amand F., Dudbridge, Frank, Holmes, Michael V, Brophy, James M., Tragante, Vinicius, Li, Ziyi, Liao, Peizhou, Quyyumi, Arshed A., McCubrey, Raymond O., Horne, Benjamin D., Hingorani, Aroon D, Asselbergs, Folkert W, Patel, Riyaz S., Long, Qi, Åkerblom, Axel, Algra, Ale, Allayee, Hooman, Almgren, Peter, Anderson, Jeffrey L., Andreassi, Maria G., Anselmi, Chiara V., Ardissino, Diego, Arsenault, Benoit J., Ballantyne, Christie M., Baranova, Ekaterina V., Behloui, Hassan, Bergmeijer, Thomas O, Bezzina, Connie R, Bjornsson, Eythor, Body, Simon C., Boeckx, Bram, Boersma, Eric H., Boerwinkle, Eric, Bogaty, Peter, Braund, Peter S, Breitling, Lutz P., Brenner, Hermann, Briguori, Carlo, Brugts, Jasper J., Burkhardt, Ralph, Cameron, Vicky A., Carlquist, John F., Carpeggiani, Clara, Carruthers, Kathryn F., Casu, Gavino, Condorelli, Gianluigi, Cresci, Sharon, Klungel, Olaf H., Maitland-Van Der Zee, Anke H., on behalf of the GENIUS-CHD Consortium, Hu, Yi Juan, Schmidt, Amand F., Dudbridge, Frank, Holmes, Michael V, Brophy, James M., Tragante, Vinicius, Li, Ziyi, Liao, Peizhou, Quyyumi, Arshed A., McCubrey, Raymond O., Horne, Benjamin D., Hingorani, Aroon D, Asselbergs, Folkert W, Patel, Riyaz S., Long, Qi, Åkerblom, Axel, Algra, Ale, Allayee, Hooman, Almgren, Peter, Anderson, Jeffrey L., Andreassi, Maria G., Anselmi, Chiara V., Ardissino, Diego, Arsenault, Benoit J., Ballantyne, Christie M., Baranova, Ekaterina V., Behloui, Hassan, Bergmeijer, Thomas O, Bezzina, Connie R, Bjornsson, Eythor, Body, Simon C., Boeckx, Bram, Boersma, Eric H., Boerwinkle, Eric, Bogaty, Peter, Braund, Peter S, Breitling, Lutz P., Brenner, Hermann, Briguori, Carlo, Brugts, Jasper J., Burkhardt, Ralph, Cameron, Vicky A., Carlquist, John F., Carpeggiani, Clara, Carruthers, Kathryn F., Casu, Gavino, Condorelli, Gianluigi, Cresci, Sharon, Klungel, Olaf H., Maitland-Van Der Zee, Anke H., and on behalf of the GENIUS-CHD Consortium

Abstract

Background - Studies of recurrent or subsequent disease events may be susceptible to bias caused by selection of subjects who both experience and survive the primary indexing event. Currently, the magnitude of any selection bias, particularly for subsequent time-to-event analysis in genetic association studies, is unknown. Methods and Results - We used empirically inspired simulation studies to explore the impact of selection bias on the marginal hazard ratio for risk of subsequent events among those with established coronary heart disease. The extent of selection bias was determined by the magnitudes of genetic and nongenetic effects on the indexing (first) coronary heart disease event. Unless the genetic hazard ratio was unrealistically large (>1.6 per allele) and assuming the sum of all nongenetic hazard ratios was <10, bias was usually <10% (downward toward the null). Despite the low bias, the probability that a confidence interval included the true effect decreased (undercoverage) with increasing sample size because of increasing precision. Importantly, false-positive rates were not affected by selection bias. Conclusions - In most empirical settings, selection bias is expected to have a limited impact on genetic effect estimates of subsequent event risk. Nevertheless, because of undercoverage increasing with sample size, most confidence intervals will be over precise (not wide enough). When there is no effect modification by history of coronary heart disease, the false-positive rates of association tests will be close to nominal.

Published
2017

30. Impact of Selection Bias on Estimation of Subsequent Event Risk

Author

Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, Hu, Yi Juan, Schmidt, Amand F., Dudbridge, Frank, Holmes, Michael V, Brophy, James M., Tragante, Vinicius, Li, Ziyi, Liao, Peizhou, Quyyumi, Arshed A., McCubrey, Raymond O., Horne, Benjamin D., Hingorani, Aroon D, Asselbergs, Folkert W, Patel, Riyaz S., Long, Qi, Åkerblom, Axel, Algra, Ale, Allayee, Hooman, Almgren, Peter, Anderson, Jeffrey L., Andreassi, Maria G., Anselmi, Chiara V., Ardissino, Diego, Arsenault, Benoit J., Ballantyne, Christie M., Baranova, Ekaterina V., Behloui, Hassan, Bergmeijer, Thomas O, Bezzina, Connie R, Bjornsson, Eythor, Body, Simon C., Boeckx, Bram, Boersma, Eric H., Boerwinkle, Eric, Bogaty, Peter, Braund, Peter S, Breitling, Lutz P., Brenner, Hermann, Briguori, Carlo, Brugts, Jasper J., Burkhardt, Ralph, Cameron, Vicky A., Carlquist, John F., Carpeggiani, Clara, Carruthers, Kathryn F., Casu, Gavino, Condorelli, Gianluigi, Cresci, Sharon, Klungel, Olaf H., Maitland-Van Der Zee, Anke H., on behalf of the GENIUS-CHD Consortium, Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, Hu, Yi Juan, Schmidt, Amand F., Dudbridge, Frank, Holmes, Michael V, Brophy, James M., Tragante, Vinicius, Li, Ziyi, Liao, Peizhou, Quyyumi, Arshed A., McCubrey, Raymond O., Horne, Benjamin D., Hingorani, Aroon D, Asselbergs, Folkert W, Patel, Riyaz S., Long, Qi, Åkerblom, Axel, Algra, Ale, Allayee, Hooman, Almgren, Peter, Anderson, Jeffrey L., Andreassi, Maria G., Anselmi, Chiara V., Ardissino, Diego, Arsenault, Benoit J., Ballantyne, Christie M., Baranova, Ekaterina V., Behloui, Hassan, Bergmeijer, Thomas O, Bezzina, Connie R, Bjornsson, Eythor, Body, Simon C., Boeckx, Bram, Boersma, Eric H., Boerwinkle, Eric, Bogaty, Peter, Braund, Peter S, Breitling, Lutz P., Brenner, Hermann, Briguori, Carlo, Brugts, Jasper J., Burkhardt, Ralph, Cameron, Vicky A., Carlquist, John F., Carpeggiani, Clara, Carruthers, Kathryn F., Casu, Gavino, Condorelli, Gianluigi, Cresci, Sharon, Klungel, Olaf H., Maitland-Van Der Zee, Anke H., and on behalf of the GENIUS-CHD Consortium

Published
2017

31. Additional file 6: of High-precision morphology: bifocal 4D-microscopy enables the comparison of detailed cell lineages of two chordate species separated for more than 525 million years

Author

Stach, Thomas and Anselmi, Chiara

Abstract

Oikopleura dioica . Analytical cell lineage tracing of individual notochordal cells between blastula stage (1 h 17 min pf) and early larval stage (4 h 15 min pf). A higher resolution version of this figure is hosted on MorphDBase at: www.morphdbase.de/?T_Stach_20151119-M-63.1. (PDF 2830 kb)

Published
2015
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32. Additional file 13: of High-precision morphology: bifocal 4D-microscopy enables the comparison of detailed cell lineages of two chordate species separated for more than 525 million years

Author

Stach, Thomas and Anselmi, Chiara

Abstract

Oikopleura dioica . Analytical cell lineage tracing of individual muscle cells between blastula stage (1 h 17 min pf) and early larval stage (4 h 15 min pf). A higher resolution version of this figure is hosted on MorphDBase at: www.morphdbase.de/?T_Stach_20151119-M-70.1. (PDF 3696 kb)

Published
2015
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33. Additional file 2: of High-precision morphology: bifocal 4D-microscopy enables the comparison of detailed cell lineages of two chordate species separated for more than 525 million years

Author

Stach, Thomas and Anselmi, Chiara

Abstract

Oikopleura dioica . Analytical cell lineage tracing of individual endodermal cells between blastula stage (1 h 37 min pf) and early larval stage (4 h 15 min pf). A higher resolution version of this Fig. is hosted on MorphDBase at: www.morphdbase.de/?T_Stach_20151119-M-59.1. (PDF 2348 kb)

Published
2015
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34. Additional file 4: of High-precision morphology: bifocal 4D-microscopy enables the comparison of detailed cell lineages of two chordate species separated for more than 525 million years

Author

Stach, Thomas and Anselmi, Chiara

Abstract

Oikopleura dioica . Analytical cell lineage tracing of individual animal-half cells between blastula stage (1 h 37 min pf) and early larval stage (4 h 15 min pf). A higher resolution version of this figure is hosted on MorphDBase at: www.morphdbase.de/?T_Stach_20151119-M-61.1. (PDF 5425 kb)

Published
2015
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35. Additional file 3: of High-precision morphology: bifocal 4D-microscopy enables the comparison of detailed cell lineages of two chordate species separated for more than 525 million years

Author

Stach, Thomas and Anselmi, Chiara

Abstract

Phallusia mammillata . Analytical cell lineage tracing of individual animal-half cells between blastula stage (3 h 55 min pf) and early tadpole stage (10 h 6 min pf). A higher resolution version of this figure is hosted on MorphDBase at: www.morphdbase.de/?T_Stach_20151119-M-60.1. (PDF 5844 kb)

Published
2015
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36. Additional file 8: of High-precision morphology: bifocal 4D-microscopy enables the comparison of detailed cell lineages of two chordate species separated for more than 525 million years

Author

Stach, Thomas and Anselmi, Chiara

Abstract

Phallusia mammillata. Analytical cell lineage tracing of individual nervous system cells between gastrula stage (5 h 38 min pf) and early tadpole stage (10 h 6 min pf). A higher resolution version of this figure is hosted on MorphDBase at: www.morphdbase.de/?T_Stach_20151119-M-65.1. (PDF 8904 kb)

Published
2015
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37. Additional file 7: of High-precision morphology: bifocal 4D-microscopy enables the comparison of detailed cell lineages of two chordate species separated for more than 525 million years

Author

Stach, Thomas and Anselmi, Chiara

Abstract

Phallusia mammillata . Analytical cell lineage tracing of individual nervous system cells between blastula stage (3 h 55 min pf) and early tadpole stage (10 h 6 min pf). A higher resolution version of this figure is hosted on MorphDBase at: www.morphdbase.de/?T_Stach_20151119-M-64.1. (PDF 2998 kb)

Published
2015
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38. Additional file 9: of High-precision morphology: bifocal 4D-microscopy enables the comparison of detailed cell lineages of two chordate species separated for more than 525 million years

Author

Stach, Thomas and Anselmi, Chiara

Abstract

Oikopleura dioica . Analytical cell lineage tracing of individual nervous system cells between earlier blastula stage (57 min pf)and early larval stage (4 h 15 min pf). A higher resolution version of this figure is hosted on MorphDBase at: www.morphdbase.de/?T_Stach_20151119-M-66.1. (PDF 4700 kb)

Published
2015
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40. Supramolecular Interactions of Chenodeoxycholic Acid Increase the Efficiency of Dye-Sensitized Solar Cells Based on a Cobalt Electrolyte

Author

Salvatori, Paolo, Marotta, Gabriele, Cinti, Antonio, Anselmi, Chiara, Mosconi, Edoardo, and De Angelis, Filippo

Abstract

A combined experimental and computational study is carried out to understand the nature of the interfaces between dye-sensitized TiO2 and cobalt-based electrolyte in the presence of a prototype coabsorbent, chenodeoxycholic acid (CDCA), employed in dye-sensitized solar cells (DSCs). It was recently reported that including CDCA both in the dye and in the electrolyte solutions substantially improved the performance of DSCs based on a Fc/Fc+ electrolyte (Daeneke et al. Nat. Chem. 2011, 3, 1755) . Here, we evaluate the individual and combined effect of CDCA as a surface coadsorbent and as an additive in DSCs based on a Co(II)/Co(III) electrolyte, in combination with two prototypical Ru(II) dyes, N719 and Z907. For both dyes, the concomitant use of CDCA in the dye bath and in the electrolyte solution leads to a significant improvement, by about a factor of 2, of the DSCs photovoltaic performances, allowing us to reach 5.3% efficiency with Z907. FT-IR analyses conducted on the solid and TiO2 -adsorbed CDCA highlight the presence of surfaceadsorbed interacting CDCA molecules, possibly creating a bulky insulating network on the TiO2 surface. Computational analyses have been carried out to gain insight into the nature of the supramolecular aggregates occurring for CDCA on the TiO2 surface.

Published
2013

41. Neutrophil Gelatinase–Associated Lipocalin and Contrast-Induced Acute Kidney Injury

Author

Quintavalle, Cristina, primary, Anselmi, Chiara Viviani, additional, De Micco, Francesca, additional, Roscigno, Giuseppina, additional, Visconti, Gabriella, additional, Golia, Bruno, additional, Focaccio, Amelia, additional, Ricciardelli, Bruno, additional, Perna, Enzo, additional, Papa, Laura, additional, Donnarumma, Elvira, additional, Condorelli, Gerolama, additional, and Briguori, Carlo, additional

Published
2015
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42. Reply

Author

Viviani Anselmi, Chiara, primary, Briguori, Carlo, additional, Roncarati, Roberta, additional, Papa, Laura, additional, Visconti, Gabriella, additional, Focaccio, Amelia, additional, De Micco, Francesca, additional, Latronico, Michael V.G., additional, Pagnotta, Paolo, additional, and Condorelli, Gianluigi, additional

Published
2014
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43. Circulating miR-29a, Among Other Up-Regulated MicroRNAs, Is the Only Biomarker for Both Hypertrophy and Fibrosis in Patients With Hypertrophic Cardiomyopathy

Author

Roncarati, Roberta, primary, Viviani Anselmi, Chiara, additional, Losi, Maria Angela, additional, Papa, Laura, additional, Cavarretta, Elena, additional, Da Costa Martins, Paula, additional, Contaldi, Carla, additional, Saccani Jotti, Gloria, additional, Franzone, Anna, additional, Galastri, Laura, additional, Latronico, Michael V.G., additional, Imbriaco, Massimo, additional, Esposito, Giovanni, additional, De Windt, Leon, additional, Betocchi, Sandro, additional, and Condorelli, Gianluigi, additional

Published
2014
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44. Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Author

Roncarati, Roberta, primary, Viviani Anselmi, Chiara, additional, Krawitz, Peter, additional, Lattanzi, Giovanna, additional, von Kodolitsch, Yskert, additional, Perrot, Andreas, additional, di Pasquale, Elisa, additional, Papa, Laura, additional, Portararo, Paola, additional, Columbaro, Marta, additional, Forni, Alberto, additional, Faggian, Giuseppe, additional, Condorelli, Gianluigi, additional, and Robinson, Peter N, additional

Published
2013
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45. Correction: RNA Editing Genes Associated with Extreme Old Age in Humans and with Lifespan in C. elegans

Author

Sebastiani, Paola, primary, Montano, Monty, additional, Puca, Annibale, additional, Solovieff, Nadia, additional, Kojima, Toshio, additional, Wang, Meng C., additional, Melista, Efthymia, additional, Meltzer, Micah, additional, Fischer, Sylvia E. J., additional, Andersen, Stacy, additional, Hartley, Stephen H., additional, Sedgewick, Amanda, additional, Arai, Yasumichi, additional, Bergman, Aviv, additional, Barzilai, Nir, additional, Terry, Dellara F., additional, Riva, Alberto, additional, Anselmi, Chiara Viviani, additional, Malovini, Alberto, additional, Kitamoto, Aya, additional, Sawabe, Motoji, additional, Arai, Tomio, additional, Gondo, Yasuyuki, additional, Steinberg, Martin H., additional, Hirose, Nobuyoshi, additional, Atzmon, Gil, additional, Ruvkun, Gary, additional, Baldwin, Clinton T., additional, and Perls, Thomas T., additional

Published
2009
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46. RNA Editing Genes Associated with Extreme Old Age in Humans and with Lifespan in C. elegans

Author

Sebastiani, Paola, primary, Montano, Monty, additional, Puca, Annibale, additional, Solovieff, Nadia, additional, Kojima, Toshio, additional, Wang, Meng C., additional, Melista, Efthymia, additional, Meltzer, Micah, additional, Fischer, Sylvia E. J., additional, Andersen, Stacy, additional, Hartley, Stephen H., additional, Sedgewick, Amanda, additional, Arai, Yasumichi, additional, Bergman, Aviv, additional, Barzilai, Nir, additional, Terry, Dellara F., additional, Riva, Alberto, additional, Anselmi, Chiara Viviani, additional, Malovini, Alberto, additional, Kitamoto, Aya, additional, Sawabe, Motoji, additional, Arai, Tomio, additional, Gondo, Yasuyuki, additional, Steinberg, Martin H., additional, Hirose, Nobuyoshi, additional, Atzmon, Gil, additional, Ruvkun, Gary, additional, Baldwin, Clinton T., additional, and Perls, Thomas T., additional

Published
2009
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48. Morphological Study and 3D Reconstruction of the Larva of the Ascidian Halocynthia roretzi.

Author

Manni, Lucia, Caicci, Federico, Anselmi, Chiara, Vanni, Virginia, Mercurio, Silvia, and Pennati, Roberta

Subjects
CIONA intestinalis, BOTRYLLUS schlosseri, COLONIAL animals (Marine invertebrates), MARINE invertebrates, LARVAL dispersal, SEA squirts, LARVAE
Abstract

The swimming larva represents the dispersal phase of ascidians, marine invertebrates belonging to tunicates. Due to its adhesive papillae, the larva searches the substrate, adheres to it, and undergoes metamorphosis, thereby becoming a sessile filter feeding animal. The larva anatomy has been described in detail in a few species, revealing a different degree of adult structure differentiation, called adultation. In the solitary ascidian Halocynthia roretzi, a species reared for commercial purposes, embryogenesis has been described in detail, but information on the larval anatomy is still lacking. Here, we describe it using a comparative approach, utilizing 3D reconstruction, as well as histological/TEM observations, with attention to its papillae. The larva is comparable to those of other solitary ascidians, such as Ciona intestinalis. However, it displays a higher level of adultation for the presence of the atrium, opened outside by means of the atrial siphon, and the peribranchial chambers. It does not reach the level of complexity of the larva of Botryllus schlosseri, a phylogenetically close colonial ascidian. Our study reveals that the papillae of H. roretzi, previously described as simple and conform, exhibit dynamic changes during settlement. This opens up new considerations on papillae morphology and evolution and deserves to be further investigated. [ABSTRACT FROM AUTHOR]

Published
2022
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50. Lessons on neurodegeneration and aging from the Lagoon of Venice: the marine invertebrate Botryllus schlosseri .

Author

Bocci T, Anselmi C, La Torre F, De Lisa E, Sabbadin G, Guidetti M, Maiorana N, Priori A, and Manni L

Abstract

In this work, the authors proposed a novel and interesting animal model for studying human neurodegenerative diseases, Botryllus schlosseri , a small invertebrate inhabiting temperate seas worldwide, which shares remarkable similarities with mammals in the expression of genes involved in pathological aging., Competing Interests: The authors report no competing interests., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)

Published
2024
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