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3. Dropout Prevention in Secondary VET from Different Learning Spaces. A Social Discussion Experience

Author

Salvà, Francesca, Pinya, Carme, Álvarez, Nuria, and Calvo, Aina

Abstract

Context: In 2016, the early leaving from education and training (ELET) rate in the Balearic Islands, Spain, was 26.8%. According to the most recent data, the participation rate in intermediate vocational education and training (VET) was 31.5%, and the graduation rate was 53.2%. In this paper, we present the main elements of the social agreement among political and social actors, derived from social discussion, which may form the main building blocks for addressing the problems of ELET and, more specifically, dropout in VET. Approach: The social discussion was developed under the need for a broader and more inclusive vision between the formal education system and the community as well as among their agents and initiatives, the mutual understanding between the educational strategies and the models of formal and non-formal education systems and the need for a dynamic and holistic approach to experiential learning processes. As researchers, we analysed the videorecorded content of participants' contributions using three categories: problems, strategies for improvements and contributions of the work group to the social agreement. Findings: The experience evidenced the severity of the ELET problem in the Balearic Islands and proved that preventing ELET and returning people between the ages of 16 and 24 to education and training programmes must become political priorities. The social agreement reflects the consensus reached regarding the need to work in networks, encourage collaboration between formal and non-formal education and emphasise the central role of the community and the active participation of students. The proposed actions regarding VET focus on the need to establish a system that integrates VET from education and from employment systems and the need to increase the offer to connect with the needs of businesses, the territory and a new model of production. The necessity of improving the quality of the system, moving towards more inclusive education and training teachers to recognize and reduce dropout risk factors was also brought up. Conclusion: The social agreement is possible even in contexts with little tradition. The innovation of this experience lies in its equating all participants at the same level of discussion. We highlight the intersection of the variety of positions that emerged in the debates as well as the consensus reached regarding the suggested proposals to address the problem of ELET and dropout in VET in the Balearic Islands.

Published
2019

4. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Author

Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., and Simard, Jacques

Published
2023
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6. Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

Author

Dorling, Leila, Carvalho, Sara, Allen, Jamie, González-Neira, Anna, Luccarini, Craig, Wahlström, Cecilia, Pooley, Karen A, Parsons, Michael T, Fortuno, Cristina, Wang, Qin, Bolla, Manjeet K, Dennis, Joe, Keeman, Renske, Alonso, M Rosario, Álvarez, Nuria, Herraez, Belen, Fernandez, Victoria, Núñez-Torres, Rocio, Osorio, Ana, Valcich, Jeanette, Li, Minerva, Törngren, Therese, Harrington, Patricia A, Baynes, Caroline, Conroy, Don M, Decker, Brennan, Fachal, Laura, Mavaddat, Nasim, Ahearn, Thomas, Aittomäki, Kristiina, Antonenkova, Natalia N, Arnold, Norbert, Arveux, Patrick, Ausems, Margreet GEM, Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Białkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia V, Bogdanova-Markov, Nadja, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Bremer, Michael, Briceno, Ignacio, Brüning, Thomas, Burwinkel, Barbara, Cameron, David A, Camp, Nicola J, Campbell, Archie, Carracedo, Angel, Castelao, Jose E, Cessna, Melissa H, Chanock, Stephen J, Christiansen, Hans, Collée, J Margriet, Cordina-Duverger, Emilie, Cornelissen, Sten, Czene, Kamila, Dörk, Thilo, Ekici, Arif B, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Försti, Asta, Gabrielson, Marike, Gago-Dominguez, Manuela, Georgoulias, Vassilios, Gil, Fabian, Giles, Graham G, Glendon, Gord, Garcia, Encarna B Gómez, Alnæs, Grethe I Grenaker, Guénel, Pascal, Hadjisavvas, Andreas, Haeberle, Lothar, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hartikainen, Jaana M, Hartman, Mikael, He, Wei, Heemskerk-Gerritsen, Bernadette AM, Hillemanns, Peter, Hogervorst, Frans BL, Hollestelle, Antoinette, Ho, Weang Kee, Hooning, Maartje J, Howell, Anthony, Humphreys, Keith, Idris, Faiza, Jakubowska, Anna, and Jung, Audrey

Subjects
Breast Cancer, Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Breast Neoplasms, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Logistic Models, Middle Aged, Mutation, Missense, Odds Ratio, Risk, Sequence Analysis, DNA, Young Adult, Breast Cancer Association Consortium, Medical and Health Sciences, General & Internal Medicine
Abstract

BackgroundGenetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking.MethodsWe used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluated missense-variant associations according to domain and classification of pathogenicity.ResultsProtein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were associated with a risk of breast cancer overall with a P value of less than 0.0001. Protein-truncating variants in 4 other genes (BARD1, RAD51C, RAD51D, and TP53) were associated with a risk of breast cancer overall with a P value of less than 0.05 and a Bayesian false-discovery probability of less than 0.05. For protein-truncating variants in 19 of the remaining 25 genes, the upper limit of the 95% confidence interval of the odds ratio for breast cancer overall was less than 2.0. For protein-truncating variants in ATM and CHEK2, odds ratios were higher for estrogen receptor (ER)-positive disease than for ER-negative disease; for protein-truncating variants in BARD1, BRCA1, BRCA2, PALB2, RAD51C, and RAD51D, odds ratios were higher for ER-negative disease than for ER-positive disease. Rare missense variants (in aggregate) in ATM, CHEK2, and TP53 were associated with a risk of breast cancer overall with a P value of less than 0.001. For BRCA1, BRCA2, and TP53, missense variants (in aggregate) that would be classified as pathogenic according to standard criteria were associated with a risk of breast cancer overall, with the risk being similar to that of protein-truncating variants.ConclusionsThe results of this study define the genes that are most clinically useful for inclusion on panels for the prediction of breast cancer risk, as well as provide estimates of the risks associated with protein-truncating variants, to guide genetic counseling. (Funded by European Union Horizon 2020 programs and others.).

Published
2021

9. Predictability of Extreme Intensity Pulses in Optically Injected Semiconductor Lasers

Author

Alvarez, Nuria Martinez, Borkar, Saurabh, and Masoller, Cristina

Subjects
Physics - Data Analysis, Statistics and Probability, Physics - Optics
Abstract

The predictability of extreme intensity pulses emitted by an optically injected semiconductor laser is studied numerically, by using a well-known rate equation model. We show that symbolic ordinal time-series analysis allows to identify the patterns of intensity oscillations that are likely to occur before an extreme pulse. The method also gives information about patterns which are unlikely to occur before an extreme pulse. The specific patterns identified capture the topology of the underlying chaotic attractor and depend on the model parameters. The methodology proposed here can be useful for analyzing data recorded from other complex systems that generate extreme fluctuations in their output signals.

Published
2017
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10. Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Author

Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., and Simard, Jacques

Published
2023
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13. A phase III, randomized, double blinded trial of platinum based chemotherapy with or without atezolizumab followed by niraparib maintenance with or without atezolizumab in patients with recurrent ovarian, tubal, or peritoneal cancer and platinum treatment free interval of more than 6 months: ENGOT-Ov41/GEICO 69-O/ANITA Trial

Author

Gonzalez Martin, Antonio, Sanchez Lorenzo, Luisa, Colombo, Nicoletta, dePont Christensen, René, Heitz, Florian, Meirovitz, Mihai, Selle, Frederic, van Gorp, Toon, Alvarez, Nuria, Sanchez, Javier, and Marqués, Carmen

Published
2021
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14. A bibliometric analysis of B Corps and sustainable business ecosystems.

Author

Alonso‐Martínez, Daniel and González‐Álvarez, Nuria

Subjects
BIBLIOMETRICS, CIRCULAR economy, BUSINESS ecosystems, SCIENTIFIC knowledge, SCIENCE databases
Abstract

Comprehending the state of the art of certified B Corps and sustainable business ecosystems (SBE) is crucial to affirming the role of B Corps in SBE development. The aim of this paper is to systematise the scientific knowledge related to both concepts and explore the role and contributions of these enterprises in the SBE. To date, no study has jointly carried out a bibliometric analysis and discussed the state of the art of B Corps and SBEs in management literature. A sample of 696 research documents from 2006 to 2024, extracted from the Web of Science and Scopus databases, has been analysed. The results show a strong relationship with the stakeholder and circular economy theories and a weaker relationship with the institutional theory, among others. The SBE literature is closely connected to sustainable and innovation business models, social entrepreneurship, and it is especially associated with social and environmental impact. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Geodivulgar: Geología y Sociedad

Author

García Frank, Alejandra, Acedo Peñato, Abel, Armendáriz Sanz , Andrés, Cabello Pozo, Jesús, Calonge García, Mª Amelia, Cambronero García-Miguel, Irene, Campos Millán, Eduardo, Canales Fernández, María Luisa, Carvajal De Lago, Alba María, Casas Gallego, Manuel, Cazorla Bermejo, Miguel, Cervilla Muros, Miguel Ángel, Chicote Alvira, Gabriel, Chiri Pérez, Oliver, Corbalán García, Judit, Coronado Vila, Ismael, Cózar Maldonado, Pedro, Del Moral González, Begoña, Díaz Megias, Isabel, Díaz Olías, Ana, Díez García, Irene Pilar, Duque Hernando, Isabel, Esteve Serrano, Jorge Vicente, Ezquerro Ruiz, Lope, Fajardo Portera, Pilar, Fesharaki, Omid, Fraguas Herráez, Ángela Raquel, Fuentes Rodriguez, María, Gamallo Paz, Isabel, Gamarra González, Jesús, García Martin, Gema, García Peco, Víctor, Gómez Recio, Marta, Gómez San Miguel, Marta Mae, Gómez Heras, Miguel, Gómez-Escalonilla Canales, Víctor, Gonzalez Acebron, Laura, Gutiérrez Gálvez, María, Henriques, Maria Helena Paiva, Hernández Hernández, Sandra Yamile, Herrero Maire-Richard, Laura, Hontecillas Tamayo, Daniel, Iglesias Álvarez, Nuria, López Martín, César, López Miguel, Mirella, Martí Martínez, Jesús, Martin Perea, David Manuel, Martín Aguilar, Lourdes, Martínez Álvarez, Leyre, Martínez Gutiérrez, Gemma, Mateos Carralafuente, José Ricardo, Mediato Arribas, José Francisco, Mejía Ruiz, Irene, Montesinos Del Valle, Mercedes, Moreno Muñoz, Alberto, Muñoz García, María Belén, Nacenta Torres, Pablo, Navarro Terron, Esther, Oliva Martín, Anabel, Portales Núñez, Killian, Quesada García, Álvaro, Reyes Rojas, Andrea Victoria, Rodrigo Sanz, Ana, Rodríguez García, Sergio, Rodríguez García De Castro, Isabel, Romero García, Santiago Alejandro, Salas Herrera, Javier, Salazar Ramírez, Roselis Waikiria, Sánchez Fontela, Noelia, Sanz Pérez, Danae, Suárez Pérez, María Gabriela, Fesharaki Tabatabai del Campo, Arian, Torices Hernández, Angélica, Ureña Marugán, Ainara, Vega Carricondo, Alejandro, Vitón García, Íñigo, Yubero Martínez, Miguel, García Frank, Alejandra, Acedo Peñato, Abel, Armendáriz Sanz , Andrés, Cabello Pozo, Jesús, Calonge García, Mª Amelia, Cambronero García-Miguel, Irene, Campos Millán, Eduardo, Canales Fernández, María Luisa, Carvajal De Lago, Alba María, Casas Gallego, Manuel, Cazorla Bermejo, Miguel, Cervilla Muros, Miguel Ángel, Chicote Alvira, Gabriel, Chiri Pérez, Oliver, Corbalán García, Judit, Coronado Vila, Ismael, Cózar Maldonado, Pedro, Del Moral González, Begoña, Díaz Megias, Isabel, Díaz Olías, Ana, Díez García, Irene Pilar, Duque Hernando, Isabel, Esteve Serrano, Jorge Vicente, Ezquerro Ruiz, Lope, Fajardo Portera, Pilar, Fesharaki, Omid, Fraguas Herráez, Ángela Raquel, Fuentes Rodriguez, María, Gamallo Paz, Isabel, Gamarra González, Jesús, García Martin, Gema, García Peco, Víctor, Gómez Recio, Marta, Gómez San Miguel, Marta Mae, Gómez Heras, Miguel, Gómez-Escalonilla Canales, Víctor, Gonzalez Acebron, Laura, Gutiérrez Gálvez, María, Henriques, Maria Helena Paiva, Hernández Hernández, Sandra Yamile, Herrero Maire-Richard, Laura, Hontecillas Tamayo, Daniel, Iglesias Álvarez, Nuria, López Martín, César, López Miguel, Mirella, Martí Martínez, Jesús, Martin Perea, David Manuel, Martín Aguilar, Lourdes, Martínez Álvarez, Leyre, Martínez Gutiérrez, Gemma, Mateos Carralafuente, José Ricardo, Mediato Arribas, José Francisco, Mejía Ruiz, Irene, Montesinos Del Valle, Mercedes, Moreno Muñoz, Alberto, Muñoz García, María Belén, Nacenta Torres, Pablo, Navarro Terron, Esther, Oliva Martín, Anabel, Portales Núñez, Killian, Quesada García, Álvaro, Reyes Rojas, Andrea Victoria, Rodrigo Sanz, Ana, Rodríguez García, Sergio, Rodríguez García De Castro, Isabel, Romero García, Santiago Alejandro, Salas Herrera, Javier, Salazar Ramírez, Roselis Waikiria, Sánchez Fontela, Noelia, Sanz Pérez, Danae, Suárez Pérez, María Gabriela, Fesharaki Tabatabai del Campo, Arian, Torices Hernández, Angélica, Ureña Marugán, Ainara, Vega Carricondo, Alejandro, Vitón García, Íñigo, and Yubero Martínez, Miguel

Abstract

Memoria final del Proyecto Innova Docencia 2023-23 nº 58. GEODIVULGAR: Geología y Sociedad

Published
2024

18. Recesión: el trastorno del espectro autista (TEA) y los métodos de enseñanza para niños en el aula de clases

Author

Menéndez Álvarez, Nuria, García García, Laura, Menéndez Álvarez, Nuria, and García García, Laura

Abstract

The following review aims to delve into an article that examines teaching methods for students with Autism Spectrum Disorder (ASD), emphasizing the importance of considering educational, familial, and social contexts, as well as the need for teacher training. Through methods like ABA and TEACCH, the importance of an inclusive approach and the role of technology are underscored, along with the ongoing involvement and training of educational and therapeutic staff. The final critique highlights the necessity for professionals with sufficient knowledge and ongoing training for educational personnel, emphasizing the importance of expanding the presence of occupational therapists in the school environment and improving their training to meet the needs of both students and teachers., Resumen: La siguiente recensión trata de profundizar en un artículo que revisa métodos de enseñanza para alumnos con Trastorno del Espectro Autista (TEA), resaltando la importancia de considerar contextos educativos, familiares y sociales, y la necesidad de formación del personal docente. Mediante métodos como ABA y TEACCH, se subraya la importancia de un enfoque inclusivo y el papel de la tecnología, así como la implicación y formación continua del personal educativo y terapéutico. La crítica final señala la necesidad de profesionales con conocimientos suficientes y la formación continua del personal educativo, destacando la importancia de extender la presencia de terapeutas ocupacionales en el ámbito escolar y mejorar su formación para atender las necesidades de alumnos y docentes.

Published
2024

19. Agentes de contraste basados en lantánidos para la obtención de bioimágenes mediante técnicas de resonancia magnética a alto campo y en modo dual T1-T2

Author

Núñez Álvarez, Nuria Ofelia, Ocaña Jurado, Manuel, Universidad de Sevilla. Departamento de Química Inorgánica, Gómez González, Elisabet, Núñez Álvarez, Nuria Ofelia, Ocaña Jurado, Manuel, Universidad de Sevilla. Departamento de Química Inorgánica, and Gómez González, Elisabet

Abstract

Magnetic Resonance Imaging (MRI) allows the visualization of organs and tissues for medical diagnosis. This technique is non-invasive, does not require the use of radioactive agents or high-energy electromagnetic waves, and has a high spatial resolution and a great image depth. Despite these advantages, in order to increase the contrast in these images between the region of interest and its surroundings, it is often necessary to use contrast agents (CAs), which are composed of magnetically active substances that shorten T1 and T2 proton relaxation times. Although MRI is well established in clinics, several modifications of this technique are being currently addressed with the aim of improving diagnostic reliability. In particular, high-field MRI and T1-T2 dual mode MRI have been proposed. The first one improves image resolution by using higher magnetic fields than those involved in conventional scanners (? 3 T). T1-T2 dual mode MRI involves recording bright and dark images simultaneously. By so doing, cross-validation of both types of images can be carried out, so that false positives can be excluded, and complementary information can be also obtained. Both advantages allow to increase diagnostic sensitivity and accuracy. Unfortunately, the conventional CAs used in clinics are not suitable for these novel techniques, for which, it is imperative to develop new contrast agents. For the high-field MRI technique, several alternatives have been considered. The most promising candidates are compounds based on Dy3+, since this ion has a very high magnetic moment (10.6 ?B), which leads to high transverse relaxivity values. For T1-T2 dual mode MRI, compounds based on Dy3+ ions as T2 component are equally interesting, and as T1 component, Gd3+ ions are usually used, which have a high spin angular momentum (7/2) that allows high values of longitudinal relaxivity. Different CAs have been reported in the literature, both for high-field MRI and T1-T2 dual mode MRI, consisting of, La técnica de obtención de imágenes por Resonancia Magnética (MRI, siglas en inglés) permite la visualización de órganos y tejidos para el diagnóstico médico. Esta técnica destaca por ser no invasiva, no requerir el uso de agentes radiactivos u ondas electromagnéticas de alta energía, poseer una alta resolución espacial y una gran profundidad de imagen. A pesar de estas ventajas, a veces es necesario aumentar el contraste entre la región de interés y su entorno, empleando agentes de contraste (ACs) que están constituidos por sustancias magnéticamente activas que acortan los tiempos de relajación T1 y T2 del protón. Los ACs que acortan T2 oscurecen la región de interés, mientras que aquellos que disminuyen el valor de T1 dan lugar a un mayor brillo de dicha región. Entre los primeros destacan los óxidos superparamagnéticos basados en óxido de hierro, y entre los segundos, los compuestos de Gd3+ en los cuales están basados los agentes de contraste comerciales. Aunque la técnica MRI está muy bien establecida en el ámbito clínico, se están abordando en la actualidad diversas modificaciones de la misma con el objetivo de mejorar la fiabilidad del diagnóstico. En concreto, se han propuesto la técnica de MRI a alto campo y la técnica de MRI dual T1 - T2. La primera supone emplear campos magnéticos más altos que los implicados en los escáneres usados en clínica (≤ 3 T), con el objeto de mejorar la resolución. La segunda permite aumentar la sensibilidad y exactitud del diagnóstico registrando imágenes brillantes y oscuras de forma simultánea, ya que, mediante la validación cruzada de ambos tipos de imágenes, se pueden excluir falsos positivos y, además, obtener información complementaria. Desafortunadamente, los ACs convencionales que se usan en clínica no son adecuados para la obtención de imágenes mediante estas técnicas por lo que es imperativo desarrollar nuevos agentes de contraste. Para la técnica de MRI a alto campo, se han desarrollado diversas alternativas siendo lo

Published
2024

20. COVID-19 patient profiles over four waves in Barcelona metropolitan area: a clustering approach

Author

Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. GRBIO - Grup de Recerca en Bioestadística i Bioinformàtica, Fernández Martínez, Daniel, Pérez Álvarez, Nuria, Molist Señé, Gemma, Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. GRBIO - Grup de Recerca en Bioestadística i Bioinformàtica, Fernández Martínez, Daniel, Pérez Álvarez, Nuria, and Molist Señé, Gemma

Abstract

Objectives: Identifying profiles of hospitalized COVID-19 patients and explore their association with different degrees of severity of COVID-19 outcomes (i.e. in-hospital mortality, ICU assistance, and invasive mechanical ventilation). The findings of this study could inform the development of multiple care intervention strategies to improve patient outcomes. Methods: Prospective multicentre cohort study during four different waves of COVID-19 from March 1st, 2020 to August 31st, 2021 in four health consortiums within the southern Barcelona metropolitan region. From a starting point of over 292 demographic characteristics, comorbidities, vital signs, severity scores, and clinical analytics at hospital admission, we used both clinical judgment and supervised statistical methods to reduce to the 36 most informative completed covariates according to the disease outcomes for each wave. Patients were then grouped using an unsupervised semiparametric method (KAMILA). Results were interpreted by clinical and statistician team consensus to identify clinically-meaningful patient profiles. Results: The analysis included nw1 = 1657, nw2 = 697, nw3 = 677, and nw4 = 787 hospitalized-COVID-19 patients for each of the four waves. Clustering analysis identified 2 patient profiles for waves 1 and 3, while 3 profiles were determined for waves 2 and 4. Patients allocated in those groups showed a different percentage of disease outcomes (e.g., wave 1: 15.9% (Cluster 1) vs. 31.8% (Cluster 2) for in-hospital mortality rate). The main factors to determine groups were the patient’s age and number of obese patients, number of comorbidities, oxygen support requirement, and various severity scores. The last wave is also influenced by the massive incorporation of COVID-19 vaccines. Conclusion: Our study suggests that a single care model at hospital admission may not meet the needs of hospitalized-COVID-19 adults. A clustering approach appears to be appropriate for helping physicians to differe, "DF, NP, and GM have been supported by l’Agència de Gestio ´ d’Ajuts Universitaris i de Recerca (AGAUR) de la Generalitat de Catalunya (Spain) [2020PANDE00148] (https://agaur.gencat. cat/en/inici/index.html). DF and NP have been supported by the Ministerio de Ciencia e Innovacio ´n (Spain) [PID2019-104830RB-I00/ DOI (AEI): 10.13039/501100011033] (https://www.aei. gob.es/en/announcements/announcements-finder/ proyectos-idi-2019-modalidades-retosinvestigacion-generacion) and by grant 2021 SGR 01421 (GRBIO, https://agaur.gencat.cat/web/ shared/OVT/Departaments/REU/A_Universitats/ AGAUR/Documents/RECERCA/SGR/Resolucio_ definitiva_SGR-Cat_2021.pdf) administrated by the Departament de Recerca i Universitats de la Generalitat de Catalunya (Spain).", Peer Reviewed, Objectius de Desenvolupament Sostenible::3 - Salut i Benestar, Postprint (published version)

Published
2024

25. The board of directors and firm innovation: A meta-analytical review

Author

Sierra-Morán, Johana, Cabeza-García, Laura, González-Álvarez, Nuria, and Botella, Juan

Abstract

The literature on corporate governance has highlighted the importance of board characteristics related to firm innovation. However, empirical findings have not been totally conclusive, and some seem contradictory. Adopting a new perspective, we have tried to help resolve the puzzle using a meta-analysis that integrates findings from 96 previous studies to analyze the relationship between board attributes, grouped by their relation to structural or demographic diversity, and firm innovation for the period 1988–2018. The results suggest that certain aspects of boards, such as meeting frequency and the proportions of independent directors and outsiders, show the most significant correlations with firm innovation, but the levels of association vary depending on whether innovation is measured as inputs or outputs and depending on the sample considered and the methodology employed. Finally, general guidelines are suggested regarding practical implications and future research.JEL CLASSIFICATION:O32, G34

Published
2024
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26. Effectiveness and safety of integrase strand transfer inhibitors in Spain: a prospective real-world study

Author

Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. GRBIO - Grup de Recerca en Bioestadística i Bioinformàtica, Ramon Santos, Jose, Casadellà, Maria, Noguera Julian, Marc, Micán Rivera, Rafael, Domingo Pedrol, Pere, Antela, Antonio, Portilla, Joaquin, Sanz Sanz, Jesús, Montero Alonso, Marta, Navarro Mercade, Jordi, Masiá, Mar, Valcarce Pardeiro, Nieves, Pérez Álvarez, Nuria, Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. GRBIO - Grup de Recerca en Bioestadística i Bioinformàtica, Ramon Santos, Jose, Casadellà, Maria, Noguera Julian, Marc, Micán Rivera, Rafael, Domingo Pedrol, Pere, Antela, Antonio, Portilla, Joaquin, Sanz Sanz, Jesús, Montero Alonso, Marta, Navarro Mercade, Jordi, Masiá, Mar, Valcarce Pardeiro, Nieves, and Pérez Álvarez, Nuria

Abstract

Introduction: Second-generation integrase strand transfer inhibitors (INSTIs) are preferred treatment options worldwide, and dolutegravir (DTG) is the treatment of choice in resource-limited settings. Nevertheless, in some resource-limited settings, these drugs are not always available. An analysis of the experience with the use of INSTIs in unselected adults living with HIV may be of help to make therapeutic decisions when second-generation INSTIs are not available. This study aimed to evaluate the real-life effectiveness and safety of dolutegravir (DTG), elvitegravir/cobicistat (EVG/c), and raltegravir (RAL) in a large Spanish cohort of HIV-1-infected patients. Methods: Real-world study of adults living with HIV who initiated integrase INSTIs DTG, EVG/c, and RAL-based regimens in three settings (ART-naïve patients, ART-switching, and ART-salvage patients). The primary endpoint was the median time to treatment discontinuation after INSTI-based regimen initiation. Proportion of patients experiencing virological failure (VF) (defined as two consecutive viral loads (VL) =200 copies/mL at 24 weeks or as a single determination of VL =1,000 copies/mL while receiving DTG, EVG/c or RAL, and at least 3 months after INSTI initiation) and time to VF were also evaluated. Results: Virological effectiveness of EVG/c- and RAL-based regimens was similar to that of DTG when given as first-line and salvage therapy. Treatment switching for reasons other than virological failure was more frequent in subjects receiving EVG/c and, in particular, RAL. Naïve patients with CD4+ nadir <100 cells/µL were more likely to develop VF, particularly if they initiated RAL or EVG/c. In the ART switching population, initiation of RAL and EVG/c was associated with both VF and INSTI discontinuation. There were no differences in the time to VF and INSTI discontinuation between DTG, EVG/c and RAL. Immunological parameters improved in the three groups and for the three drugs assessed. Safety and tolerabil, Peer Reviewed, Postprint (published version)

Published
2023

27. A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact

Author

Instituto de Salud Carlos III, European Commission, Núñez-Torres, Rocío, Pita, Guillermo, Peña-Chilet, María, López-López, Daniel, Zamora, Jorge, Roldán, Gema, Herráez, Belén, Álvarez, Nuria, Alonso, María Rosario, Dopazo, Joaquín, González-Neira, Anna, Instituto de Salud Carlos III, European Commission, Núñez-Torres, Rocío, Pita, Guillermo, Peña-Chilet, María, López-López, Daniel, Zamora, Jorge, Roldán, Gema, Herráez, Belén, Álvarez, Nuria, Alonso, María Rosario, Dopazo, Joaquín, and González-Neira, Anna

Abstract

The implementation of pharmacogenetics (PGx) is a main milestones of precision medicine nowadays in order to achieve safer and more effective therapies. Nevertheless, the implementation of PGx diagnostics is extremely slow and unequal worldwide, in part due to a lack of ethnic PGx information. We analysed genetic data from 3006 Spanish individuals obtained by different high-throughput (HT) techniques. Allele frequencies were determined in our population for the main 21 actionable PGx genes associated with therapeutical changes. We found that 98% of the Spanish population harbours at least one allele associated with a therapeutical change and, thus, there would be a need for a therapeutical change in a mean of 3.31 of the 64 associated drugs. We also identified 326 putative deleterious variants that were not previously related with PGx in 18 out of the 21 main PGx genes evaluated and a total of 7122 putative deleterious variants for the 1045 PGx genes described. Additionally, we performed a comparison of the main HT diagnostic techniques, revealing that after whole genome sequencing, genotyping with the PGx HT array is the most suitable solution for PGx diagnostics. Finally, all this information was integrated in the Collaborative Spanish Variant Server to be available to and updated by the scientific community.

Published
2023

28. A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact

Author

Nunez-Torres, Rocio, primary, Pita, Guillermo, additional, Peña-Chilet, María, additional, López-López, Daniel, additional, Zamora, Jorge, additional, Roldán, Gema, additional, Herráez, Belén, additional, Álvarez, Nuria, additional, Alonso, María Rosario, additional, Dopazo, Joaquín, additional, and Gonzalez-Neira, Anna, additional

Published
2023
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31. Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1

Author

Glubb, Dylan M., Maranian, Mel J., Michailidou, Kyriaki, Pooley, Karen A., Meyer, Kerstin B., Kar, Siddhartha, Carlebur, Saskia, O’Reilly, Martin, Betts, Joshua A., Hillman, Kristine M., Kaufmann, Susanne, Beesley, Jonathan, Canisius, Sander, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., van der Schoot, C. Ellen, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Ruebner, Matthias, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Pharoah, Paul D.P., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Surowy, Harald, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, González-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Ko, Yon-Dschun, Brüning, Thomas, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tanaka, Hideo, Dörk, Thilo, Bogdanova, Natalia V., Helbig, Sonja, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-chen, Van Den Berg, David, Stram, Daniel O., Lambrechts, Diether, Zhao, Hui, Weltens, Caroline, van Limbergen, Erik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Radice, Paolo, Peterlongo, Paolo, Barile, Monica, Capra, Fabio, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Giles, Graham G., Milne, Roger L., McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, See, Mee-Hoong, Cornes, Belinda, Cheng, Ching-Yu, Ikram, M. Kamran, Kristensen, Vessela, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Van Asperen, Christi J., García-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Klevebring, Daniel, Darabi, Hatef, Eriksson, Mikael, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W.M., Collée, J. Margriet, Hall, Per, Li, Jingmei, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W.R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Shah, Mitul, Ghoussaini, Maya, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Lim, Wei Yen, Tang, Anthony, Hamann, Ute, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Olswold, Curtis, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Wu, Pei-Ei, Yu, Jyh-Cherng, Hou, Ming-Feng, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, Pita, Guillermo, Alonso, M. Rosario, Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Brown, Melissa A., Ponder, Bruce A.J., Chenevix-Trench, Georgia, Thompson, Deborah J., Edwards, Stacey L., Easton, Douglas F., Dunning, Alison M., and French, Juliet D.

Published
2015
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32. Experiencias de jóvenes de sectores populares urbanos en los procesos de enseñanza y aprendizaje virtuales durante la pandemia 2020-2021

Author

Álvarez, Nuria Luz and Artiguenave, Darío Gastón

Subjects
virtualidad, jóvenes, COVID-19, Comunicación Social, escolaridad
Abstract

El presente trabajo propone desarrollar una indagación exploratoria de experiencias de jóvenes que participan de procesos de enseñanza y aprendizaje virtual (motivada por el contexto de pandemia global) como parte de su escolaridad secundaria. La finalidad de este proyecto es construir conocimiento en torno a los modos a través de los cuales jóvenes de entre 15 a 18 años, pertenecientes a sectores populares urbanos que se encuentren transitando el nivel secundario de estudios en la Provincia de Buenos Aires, establecen su vínculo con la virtualidad. Esta última es entendida como una estrategia de emergencia abocada a tratar de establecer líneas de continuidad de la enseñanza y el aprendizaje implementadas de manera compulsiva ante las medidas sanitarias de aislamiento preventivo ante la COVID 19., Facultad de Periodismo y Comunicación Social

Published
2023

33. Global Entrepreneurship Monitor. Informe GEM España 2016

Author

Gutiérrez-Solana Salcedo, Federico, additional, Peña, Iñaki, additional, Guerrero, Maribel, additional, González-Pernía, José L., additional, Alonso Martínez, Daniel, additional, González Álvarez, Nuria, additional, Nieto, Mariano, additional, Aguado Romero, José, additional, García-Parada Arias, Gabriel, additional, Hernández Peinado, Manuel, additional, and Rodríguez Ariza, Lázaro, additional

Published
2017
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41. Improvement of Mitochondrial Toxicity in Patients Receiving a Nucleoside Reverse-Transcriptase Inhibitor–Sparing Strategy: Results from the Multicenter Study with Nevirapine and Kaletra (MULTINEKA)

Author

MULTINEKA Study Group, Negredo, Eugenia, Miró, Òscar, Rodríguez-Santiago, Benjamí, Garrabou, Glòria, Estany, Carla, Masabeu, Àngels, Force, Lluís, Barrufet, Pilar, Cucurull, Josep, Domingo, Pere, Alonso-Villaverde, Carlos, Bonjoch, Anna, Morén, Constanza, Pérez-Alvarez, Núria, and Clotet, Bonaventura

Published
2009

42. Gut microbiome signatures linked to HIV-1 reservoir size and viremia control

Author

Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. GRBIO - Grup de Recerca en Bioestadística i Bioinformàtica, Borgognone, Alessandra, Noguera Julian, Marc, Oriol, Bruna, Noël Romas, Laura, Ruiz Riol, Marta, Guillen, Yolanda, Parera, Mariona, Casadellà, Maria, Duran, Clara, Puertas Castro, Maria C., Català Moll, Francesc, De Leon, Marlon, Knodel, Samantha, Pérez Álvarez, Nuria, Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. GRBIO - Grup de Recerca en Bioestadística i Bioinformàtica, Borgognone, Alessandra, Noguera Julian, Marc, Oriol, Bruna, Noël Romas, Laura, Ruiz Riol, Marta, Guillen, Yolanda, Parera, Mariona, Casadellà, Maria, Duran, Clara, Puertas Castro, Maria C., Català Moll, Francesc, De Leon, Marlon, Knodel, Samantha, and Pérez Álvarez, Nuria

Abstract

Background The potential role of the gut microbiome as a predictor of immune-mediated HIV-1 control in the absence of antiretroviral therapy (ART) is still unknown. In the BCN02 clinical trial, which combined the MVA.HIVconsv immunogen with the latency-reversing agent romidepsin in early-ART treated HIV-1 infected individuals, 23% (3/13) of participants showed sustained low-levels of plasma viremia during 32 weeks of a monitored ART pause (MAP). Here, we present a multi-omics analysis to identify compositional and functional gut microbiome patterns associated with HIV-1 control in the BCN02 trial. Results Viremic controllers during the MAP (controllers) exhibited higher Bacteroidales/Clostridiales ratio and lower microbial gene richness before vaccination and throughout the study intervention when compared to non-controllers. Longitudinal assessment indicated that the gut microbiome of controllers was enriched in pro-inflammatory bacteria and depleted in butyrate-producing bacteria and methanogenic archaea. Functional profiling also showed that metabolic pathways related to fatty acid and lipid biosynthesis were significantly increased in controllers. Fecal metaproteome analyses confirmed that baseline functional differences were mainly driven by Clostridiales. Participants with high baseline Bacteroidales/Clostridiales ratio had increased pre-existing immune activation-related transcripts. The Bacteroidales/Clostridiales ratio as well as host immune-activation signatures inversely correlated with HIV-1 reservoir size. Conclusions The present proof-of-concept study suggests the Bacteroidales/Clostridiales ratio as a novel gut microbiome signature associated with HIV-1 reservoir size and immune-mediated viral control after ART interruption., Peer Reviewed, Objectius de Desenvolupament Sostenible::3 - Salut i Benestar, Objectius de Desenvolupament Sostenible::10 - Reducció de les Desigualtats, Postprint (published version)

Published
2022

43. Prevalence, progression, and management of advanced chronic kidney disease in a cohort of people living with HIV

Author

Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. GRBIO - Grup de Recerca en Bioestadística i Bioinformàtica, Bonjoch Badia, Anna, Juega Mariño, Javier, Echeverria Liras, Patricia, Puig, Jordi, Pérez Álvarez, Nuria, Bonal, Jordi, Loste, Cora, Clotet, Bonaventura, Negredo Puigmal, Eugènia, Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. GRBIO - Grup de Recerca en Bioestadística i Bioinformàtica, Bonjoch Badia, Anna, Juega Mariño, Javier, Echeverria Liras, Patricia, Puig, Jordi, Pérez Álvarez, Nuria, Bonal, Jordi, Loste, Cora, Clotet, Bonaventura, and Negredo Puigmal, Eugènia

Abstract

This is the peer reviewed version of the following article: Bonjoch, A. [et al.]. Prevalence, progression, and management of advanced chronic kidney disease in a cohort of people living with HIV. "HIV Medicine", 26 Abril 2022, vol. 23, núm. 10, p. 1078-1084, which has been published in final form at https://onlinelibrary.wiley.com/doi/10.1111/hiv.13317. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited, Peer Reviewed, Postprint (published version)

Published
2022

44. Supplementary files of the article 'Novel genes and sex differences in COVID-19 severity' [Dataset]

Author

Cruz Modino, Raquel de la, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C., Pita, Guillermo, Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Gago-Dominguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Carbonell, Cristina, Migeotte, Isabelle, Renieri, Alessandra, Aguilera-Albesa, Sergio, Planas, Anna M., Ludwig, Kerstin U., Buti, María, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Schulte, Eva C., Tamayo-Velasco, Álvaro, Franke, Andre, Castaño, Luis, Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Almadana Pacheco, Virginia, Richards, Brent, Ganna, Andrea, Boada, Mercè, Rojas, Itziar de, Gil-Fournier, Belén, Ruiz, Agustín, Sánchez-Juan, Pascual, Castelao, Jose E., Real, Luis Miguel, SCOURGE Cohort Group, HOSTAGE Cohort Group, GRA@CE Cohort Group, Almoguera, Berta, Guillen-Navarro, Encarna, Ayuso, Carmen, Gómez-Arrue, Javier, González-Neira, Anna, Riancho, José A., Rojas-Martinez, Augusto, Conde-Vicente, Rosa, Flores, Carlos, Lapunzina, Pablo, Carracedo, Ángel, Álvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, González Álvarez, Beatriz, Arango, Celso, Arranz, Maria J., Artiga, María Jesús, Baptista-Rosas, Raúl C., Cordero-Lorenzana, M. Lourdes, Barreda-Sánchez, María, Belhassen-García, Moncef, Bezerra, Joao F., Bezerra, Marcos A. C., Boix-Palop, Lucía, Gonzalez Bernaldo de Quirós, Fernán, Briones, María, Brugada, Ramón, Bustos, Matilde, Cortés-Sánchez, José L., Cortón, Marta, Darnaude, M. Teresa, Martino-Rodríguez, Alba de, Tamayo, Eduardo, Campo-Pérez, Víctor de, Diaz de Bustamante, Aranzazu, González-Peñas, Javier, Domínguez-Garrido, Elena, Luchessi, Andre D., Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Fariñas, María del Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gutiérrez-Bautista, Juan F., Herrero, María José, Herrero-Gonzalez, Antonio, Jiménez-Sousa, María A., Aguado, José María, Lattig, María Claudia, Taracido-Fernandez, Juan Carlos, Liger Borja, Anabel, López-Rodríguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martínez-Nieto, Oscar, Martinez-López, Icíar, Martinez-Resendez, Michel F., Amitrano, Sara, Martínez-Pérez, Àngel, Mazzeu, Juliana F, Teper, Alejandro, Merayo Macías, Eleuterio, Mínguez, Pablo, Moreno Cuerda, Víctor, Silbiger, Vivian N., Oliveira, Silviene F., Ortega-Paino, Eva, Parellada, Mara, Roade, Luisa, Paz-Artal, Estela, Santos, Ney P. C., Pérez-Matute, Patricia, Torres-Tobar, Lilian, Pérez Ramírez, Patricia, Pérez-Tomás, M. Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N., Porras-Hurtado, Gloria L., Fava, Francesca, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R., Urioste, Miguel, Rodríguez-Ruiz, Emilio, Rodríguez-Artalejo, Fernando, Rodríguez-García, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Spinner, Christoph D., Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Nevado, Julian, Pigazzini, Sara, Degenhardt, Frauke, Prati, Daniele, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Bernardo, David, García, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Calderón, Enrique J., Holter, Jan Cato, Aguilar, Carlos, Banales, Jesús M., Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C., Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, Hov, Johannes R., Cruz Modino, Raquel de la, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C., Pita, Guillermo, Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Gago-Dominguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Carbonell, Cristina, Migeotte, Isabelle, Renieri, Alessandra, Aguilera-Albesa, Sergio, Planas, Anna M., Ludwig, Kerstin U., Buti, María, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Schulte, Eva C., Tamayo-Velasco, Álvaro, Franke, Andre, Castaño, Luis, Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Almadana Pacheco, Virginia, Richards, Brent, Ganna, Andrea, Boada, Mercè, Rojas, Itziar de, Gil-Fournier, Belén, Ruiz, Agustín, Sánchez-Juan, Pascual, Castelao, Jose E., Real, Luis Miguel, SCOURGE Cohort Group, HOSTAGE Cohort Group, GRA@CE Cohort Group, Almoguera, Berta, Guillen-Navarro, Encarna, Ayuso, Carmen, Gómez-Arrue, Javier, González-Neira, Anna, Riancho, José A., Rojas-Martinez, Augusto, Conde-Vicente, Rosa, Flores, Carlos, Lapunzina, Pablo, Carracedo, Ángel, Álvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, González Álvarez, Beatriz, Arango, Celso, Arranz, Maria J., Artiga, María Jesús, Baptista-Rosas, Raúl C., Cordero-Lorenzana, M. Lourdes, Barreda-Sánchez, María, Belhassen-García, Moncef, Bezerra, Joao F., Bezerra, Marcos A. C., Boix-Palop, Lucía, Gonzalez Bernaldo de Quirós, Fernán, Briones, María, Brugada, Ramón, Bustos, Matilde, Cortés-Sánchez, José L., Cortón, Marta, Darnaude, M. Teresa, Martino-Rodríguez, Alba de, Tamayo, Eduardo, Campo-Pérez, Víctor de, Diaz de Bustamante, Aranzazu, González-Peñas, Javier, Domínguez-Garrido, Elena, Luchessi, Andre D., Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Fariñas, María del Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gutiérrez-Bautista, Juan F., Herrero, María José, Herrero-Gonzalez, Antonio, Jiménez-Sousa, María A., Aguado, José María, Lattig, María Claudia, Taracido-Fernandez, Juan Carlos, Liger Borja, Anabel, López-Rodríguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martínez-Nieto, Oscar, Martinez-López, Icíar, Martinez-Resendez, Michel F., Amitrano, Sara, Martínez-Pérez, Àngel, Mazzeu, Juliana F, Teper, Alejandro, Merayo Macías, Eleuterio, Mínguez, Pablo, Moreno Cuerda, Víctor, Silbiger, Vivian N., Oliveira, Silviene F., Ortega-Paino, Eva, Parellada, Mara, Roade, Luisa, Paz-Artal, Estela, Santos, Ney P. C., Pérez-Matute, Patricia, Torres-Tobar, Lilian, Pérez Ramírez, Patricia, Pérez-Tomás, M. Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N., Porras-Hurtado, Gloria L., Fava, Francesca, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R., Urioste, Miguel, Rodríguez-Ruiz, Emilio, Rodríguez-Artalejo, Fernando, Rodríguez-García, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Spinner, Christoph D., Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Nevado, Julian, Pigazzini, Sara, Degenhardt, Frauke, Prati, Daniele, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Bernardo, David, García, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Calderón, Enrique J., Holter, Jan Cato, Aguilar, Carlos, Banales, Jesús M., Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C., Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, and Hov, Johannes R.

Published
2022

45. Novel genes and sex differences in COVID-19 severity

Author

Instituto de Salud Carlos III, European Commission, Fundación Amancio Ortega, Banco Santander, Estrella de Levante, Colabora Mujer, Fundación Canaria Instituto de Investigación Sanitaria de Canarias, Cruz Modino, Raquel de la, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C., Pita, Guillermo, Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Gago-Dominguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Carbonell, Cristina, Migeotte, Isabelle, Renieri, Alessandra, Aguilera-Albesa, Sergio, Planas, Anna M., Ludwig, Kerstin U., Buti, María, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Schulte, Eva C., Tamayo-Velasco, Álvaro, Franke, Andre, Castaño, Luis, Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Almadana Pacheco, Virginia, Richards, Brent, Ganna, Andrea, Boada, Mercè, Rojas, Itziar de, Gil-Fournier, Belén, Ruiz, Agustín, Sánchez-Juan, Pascual, Castelao, Jose E., Real, Luis Miguel, SCOURGE Cohort Group, HOSTAGE Cohort Group, GRA@CE Cohort Group, Almoguera, Berta, Guillen-Navarro, Encarna, Ayuso, Carmen, Gómez-Arrue, Javier, González-Neira, Anna, Riancho, José A., Rojas-Martinez, Augusto, Conde-Vicente, Rosa, Flores, Carlos, Lapunzina, Pablo, Carracedo, Ángel, Álvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, González Álvarez, Beatriz, Arango, Celso, Arranz, Maria J., Artiga, María Jesús, Baptista-Rosas, Raúl C., Cordero-Lorenzana, M. Lourdes, Barreda-Sánchez, María, Belhassen-García, Moncef, Bezerra, Joao F., Bezerra, Marcos A. C., Boix-Palop, Lucía, Gonzalez Bernaldo de Quirós, Fernán, Briones, María, Brugada, Ramón, Bustos, Matilde, Cortés-Sánchez, José L., Cortón, Marta, Darnaude, M. Teresa, Martino-Rodríguez, Alba de, Tamayo, Eduardo, Campo-Pérez, Víctor de, Diaz de Bustamante, Aranzazu, González-Peñas, Javier, Domínguez-Garrido, Elena, Luchessi, Andre D., Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Fariñas, María del Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gutiérrez-Bautista, Juan F., Herrero, María José, Herrero-Gonzalez, Antonio, Jiménez-Sousa, María A., Aguado, José María, Lattig, María Claudia, Taracido-Fernandez, Juan Carlos, Liger Borja, Anabel, López-Rodríguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martínez-Nieto, Oscar, Martinez-López, Icíar, Martinez-Resendez, Michel F., Amitrano, Sara, Martínez-Pérez, Àngel, Mazzeu, Juliana F, Teper, Alejandro, Merayo Macías, Eleuterio, Mínguez, Pablo, Moreno Cuerda, Víctor, Silbiger, Vivian N., Oliveira, Silviene F., Ortega-Paino, Eva, Parellada, Mara, Roade, Luisa, Paz-Artal, Estela, Santos, Ney P. C., Pérez-Matute, Patricia, Torres-Tobar, Lilian, Pérez Ramírez, Patricia, Pérez-Tomás, M. Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N., Porras-Hurtado, Gloria L., Fava, Francesca, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R., Urioste, Miguel, Rodríguez-Ruiz, Emilio, Rodríguez-Artalejo, Fernando, Rodríguez-García, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Spinner, Christoph D., Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Nevado, Julian, Pigazzini, Sara, Degenhardt, Frauke, Prati, Daniele, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Bernardo, David, García, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Calderón, Enrique J., Holter, Jan Cato, Aguilar, Carlos, Banales, Jesús M., Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C., Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, Hov, Johannes R., Instituto de Salud Carlos III, European Commission, Fundación Amancio Ortega, Banco Santander, Estrella de Levante, Colabora Mujer, Fundación Canaria Instituto de Investigación Sanitaria de Canarias, Cruz Modino, Raquel de la, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C., Pita, Guillermo, Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Gago-Dominguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Carbonell, Cristina, Migeotte, Isabelle, Renieri, Alessandra, Aguilera-Albesa, Sergio, Planas, Anna M., Ludwig, Kerstin U., Buti, María, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Schulte, Eva C., Tamayo-Velasco, Álvaro, Franke, Andre, Castaño, Luis, Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Almadana Pacheco, Virginia, Richards, Brent, Ganna, Andrea, Boada, Mercè, Rojas, Itziar de, Gil-Fournier, Belén, Ruiz, Agustín, Sánchez-Juan, Pascual, Castelao, Jose E., Real, Luis Miguel, SCOURGE Cohort Group, HOSTAGE Cohort Group, GRA@CE Cohort Group, Almoguera, Berta, Guillen-Navarro, Encarna, Ayuso, Carmen, Gómez-Arrue, Javier, González-Neira, Anna, Riancho, José A., Rojas-Martinez, Augusto, Conde-Vicente, Rosa, Flores, Carlos, Lapunzina, Pablo, Carracedo, Ángel, Álvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, González Álvarez, Beatriz, Arango, Celso, Arranz, Maria J., Artiga, María Jesús, Baptista-Rosas, Raúl C., Cordero-Lorenzana, M. Lourdes, Barreda-Sánchez, María, Belhassen-García, Moncef, Bezerra, Joao F., Bezerra, Marcos A. C., Boix-Palop, Lucía, Gonzalez Bernaldo de Quirós, Fernán, Briones, María, Brugada, Ramón, Bustos, Matilde, Cortés-Sánchez, José L., Cortón, Marta, Darnaude, M. Teresa, Martino-Rodríguez, Alba de, Tamayo, Eduardo, Campo-Pérez, Víctor de, Diaz de Bustamante, Aranzazu, González-Peñas, Javier, Domínguez-Garrido, Elena, Luchessi, Andre D., Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Fariñas, María del Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gutiérrez-Bautista, Juan F., Herrero, María José, Herrero-Gonzalez, Antonio, Jiménez-Sousa, María A., Aguado, José María, Lattig, María Claudia, Taracido-Fernandez, Juan Carlos, Liger Borja, Anabel, López-Rodríguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martínez-Nieto, Oscar, Martinez-López, Icíar, Martinez-Resendez, Michel F., Amitrano, Sara, Martínez-Pérez, Àngel, Mazzeu, Juliana F, Teper, Alejandro, Merayo Macías, Eleuterio, Mínguez, Pablo, Moreno Cuerda, Víctor, Silbiger, Vivian N., Oliveira, Silviene F., Ortega-Paino, Eva, Parellada, Mara, Roade, Luisa, Paz-Artal, Estela, Santos, Ney P. C., Pérez-Matute, Patricia, Torres-Tobar, Lilian, Pérez Ramírez, Patricia, Pérez-Tomás, M. Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N., Porras-Hurtado, Gloria L., Fava, Francesca, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R., Urioste, Miguel, Rodríguez-Ruiz, Emilio, Rodríguez-Artalejo, Fernando, Rodríguez-García, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Spinner, Christoph D., Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Nevado, Julian, Pigazzini, Sara, Degenhardt, Frauke, Prati, Daniele, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Bernardo, David, García, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Calderón, Enrique J., Holter, Jan Cato, Aguilar, Carlos, Banales, Jesús M., Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C., Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, and Hov, Johannes R.

Abstract

Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10-8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10-22 and P = 8.1 × 10-12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10-8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10-8) and ARHGAP33 (P = 1.3 × 10-8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10-8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.

Published
2022

46. Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

Author

Zhang, Ben, Shu, Xiao-Ou, Delahanty, Ryan J., Zeng, Chenjie, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Wen, Wanqing, Long, Jirong, Li, Chun, Dunning, Alison M., Chang-Claude, Jenny, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, Floris, Giuseppe, Schmidt, Marjanka K., Rookus, Matti A., van den Hurk, Katja, de Kort, Wim L. A. M., Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Li, Jingmei, Humphreys, Keith, Brand, Judith, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Menegaux, Florence, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Surowy, Harald, Benitez, Javier, Zamora, M. Pilar, Perez, Jose I. A., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Chenevix-Trench, Georgia, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Marchand, Loic Le, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J., Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Collée, J. Margriet, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Giles, Graham G., Milne, Roger L., McLean, Catriona, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Swerdlow, Anthony J., Ashworth, Alan, Orr, Nick, Jones, Michael, Figueroa, Jonine, Garcia-Closas, Montserrat, Brinton, Louise, Lissowska, Jolanta, Dumont, Martine, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Radice, Paolo, Bogdanova, Natalia, Antonenkova, Natalia, Dörk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubiński, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Hamann, Ute, Torres, Diana, Schmutzler, Rita K., Neuhausen, Susan L., Anton-Culver, Hoda, Kristensen, Vessela N., Grenaker Alnæs, Grethe I., Pierce, Brandon L., Kraft, Peter, Peters, Ulrike, Lindstrom, Sara, Seminara, Daniela, Burgess, Stephen, Ahsan, Habibul, Whittemore, Alice S., John, Esther M., Gammon, Marilie D., Malone, Kathleen E., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Álvarez, Nuria, Herrero, Daniel, Pharoah, Paul D. P., Simard, Jacques, Hall, Per, Hunter, David J., Easton, Douglas F., and Zheng, Wei

Published
2015
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47. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author

Mavaddat, Nasim, Pharoah, Paul D. P., Michailidou, Kyriaki, Tyrer, Jonathan, Brook, Mark N., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Dunning, Alison M., Shah, Mitul, Luben, Robert, Brown, Judith, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Peto, Julian, dos-Santos-Silva, Isabel, Dudbridge, Frank, Johnson, Nichola, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel J., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., Lambrechts, Diether, Wildiers, Hans, Van Ongeval, Chantal, van Limbergen, Erik, Kristensen, Vessela, Grenaker Alnæs, Grethe, Nord, Silje, Borresen-Dale, Anne-Lise, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen M., Hunter, David J., Lindstrom, Sara, Tamimi, Rulla M., Kraft, Peter, Rahman, Nazneen, Turnbull, Clare, Renwick, Anthony, Seal, Sheila, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Menéndez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Anton-Culver, Hoda, Neuhausen, Susan L., Ziogas, Argyrios, Bernstein, Leslie, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, van Asperen, Christi J., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Khusnutdinova, Elza, Bermisheva, Marina, Prokofyeva, Darya, Takhirova, Zalina, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Schürmann, Peter, Bremer, Michael, Christiansen, Hans, Park-Simon, Tjoung-Won, Hillemanns, Peter, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Pensotti, Valeria, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Sigurdson, Alice J., Doody, Michele M., Hamann, Ute, Torres, Diana, Ulmer, Hans-Ulrich, Försti, Asta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Marie Mulligan, Anna, Chenevix-Trench, Georgia, Balleine, Rosemary, Giles, Graham G., Milne, Roger L., McLean, Catriona, Lindblom, Annika, Margolin, Sara, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Eilber, Ursula, Wang-Gohrke, Shan, Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., Koppert, Linetta B., Carpenter, Jane, Clarke, Christine, Scott, Rodney, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Karina Dieffenbach, Aida, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Offit, Kenneth, Vijai, Joseph, Robson, Mark, Rau-Murthy, Rohini, Dwek, Miriam, Swann, Ruth, Annie Perkins, Katherine, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Eccles, Diana M., Tapper, William J., Rafiq, Sajjad, John, Esther M., Whittemore, Alice S., Slager, Susan, Yannoukakos, Drakoulis, Toland, Amanda E., Yao, Song, Zheng, Wei, Halverson, Sandra L., González-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Simard, Jacques, Hall, Per, Easton, Douglas F., and Garcia-Closas, Montserrat

Published
2015
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49. Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk.

Author

Wilcox, Naomi, primary, Dumont, Martine, additional, González-Neira, Anna, additional, Carvalho, Sara, additional, Beauparlant, Charles Joly, additional, Crotti, Marco, additional, Luccarini, Craig, additional, Soucy, Penny, additional, Dubois, Stéphane, additional, Nuñez-Torres, Rocio, additional, Pita, Guillermo, additional, Alonso, M. Rosario, additional, Álvarez, Nuria, additional, Baynes, Caroline, additional, Becker, Heiko, additional, Behrens, Sabine, additional, Bolla, Manjeet K., additional, Castelao, Jose E., additional, Chang-Claude, Jenny, additional, Cornelissen, Sten, additional, Dennis, Joe, additional, Dörk, Thilo, additional, Engel, Christoph, additional, Gago-Dominguez, Manuela, additional, Guenel, Pascal, additional, Hadjisavvas, Andreas, additional, Hahnen, Eric, additional, Hartman, Mikael, additional, Herráez, Belén, additional, Investigators, SGBCC, additional, Jung, Audrey, additional, Keeman, Renske, additional, Kiechle, Marion, additional, Li, Jingmei, additional, Loizidou, Maria A., additional, Lush, Michael, additional, Michailidou, Kyriaki, additional, Panayiotidis, Mihalis I., additional, Sim, Xueling, additional, Teo, Soo Hwang, additional, Tyrer, Jonathan P., additional, van der Kolk, Lizet E., additional, Wahlstrom, Cecilia, additional, Wang, Qin, additional, Benitez, Javier, additional, Schmidt, Marjanka K., additional, Schmutzler, Rita K., additional, Pharoah, Paul, additional, Droit, Arnaud, additional, Dunning, Alison M, additional, Kvist, Anders, additional, Devilee, Peter, additional, Easton, Douglas F., additional, and Simard, Jacques, additional

Published
2022
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