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2. Does a Multiple Myeloma Polygenic Risk Score Predict Overall Survival of Patients with Myeloma?

Author

Macauda, Angelica, Clay-Gilmour, Alyssa, Hielscher, Thomas, Hildebrandt, Michelle, Kruszewski, Marcin, Orlowski, Robert, Kumar, Shaji, Ziv, Elad, Orciuolo, Enrico, Brown, Elizabeth, Försti, Asta, Waller, Rosalie, Machiela, Mitchell, Chanock, Stephen, Camp, Nicola, Rymko, Marcin, Raźny, Małgorzata, Cozen, Wendy, Várkonyi, Judit, Piredda, Chiara, Pelosini, Matteo, Belachew, Alem, Subocz, Edyta, Hemminki, Kari, Rybicka-Ramos, Malwina, Giles, Graham, Milne, Roger, Hofmann, Jonathan, Zaucha, Jan, Vangsted, Annette, Goldschmidt, Hartmut, Rajkumar, S, Tomczak, Waldemar, Sainz, Juan, Butrym, Aleksandra, Watek, Marzena, Iskierka-Jazdzewska, Elżbieta, Buda, Gabriele, Robinson, Dennis, Jurczyszyn, Artur, Dudziński, Marek, Martinez-Lopez, Joaquin, Sinnwell, Jason, Slager, Susan, Jamroziak, Krzysztof, Reis, Rui, Weinhold, Niels, Bhatti, Parveen, Carvajal-Carmona, Luis, Zawirska, Daria, Norman, Aaron, Mazur, Grzegorz, Berndt, Sonja, Campa, Daniele, Vachon, Celine, and Canzian, Federico

Subjects
Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Multiple Myeloma, Polymorphism, Single Nucleotide, Risk Factors
Abstract

BACKGROUND: Genome-wide association studies (GWAS) of multiple myeloma in populations of European ancestry (EA) identified and confirmed 24 susceptibility loci. For other cancers (e.g., colorectum and melanoma), risk loci have also been associated with patient survival. METHODS: We explored the possible association of all the known risk variants and their polygenic risk score (PRS) with multiple myeloma overall survival (OS) in multiple populations of EA [the International Multiple Myeloma rESEarch (IMMEnSE) consortium, the International Lymphoma Epidemiology consortium, CoMMpass, and the German GWAS] for a total of 3,748 multiple myeloma cases. Cox proportional hazards regression was used to assess the association between each risk SNP with OS under the allelic and codominant models of inheritance. All analyses were adjusted for age, sex, country of origin (for IMMEnSE) or principal components (for the others) and disease stage (ISS). SNP associations were meta-analyzed. RESULTS: SNP associations were meta-analyzed. From the meta-analysis, two multiple myeloma risk SNPs were associated with OS (P < 0.05), specifically POT1-AS1-rs2170352 [HR = 1.37; 95% confidence interval (CI) = 1.09-1.73; P = 0.007] and TNFRSF13B-rs4273077 (HR = 1.19; 95% CI = 1.01-1.41; P = 0.04). The association between the combined 24 SNP MM-PRS and OS, however, was not significant. CONCLUSIONS: Overall, our results did not support an association between the majority of multiple myeloma risk SNPs and OS. IMPACT: This is the first study to investigate the association between multiple myeloma PRS and OS in multiple myeloma.

Published
2022

3. Identification of novel genetic loci for risk of multiple myeloma by functional annotation

Author

Macauda, Angelica, Briem, Klara, Clay-Gilmour, Alyssa, Cozen, Wendy, Försti, Asta, Giaccherini, Matteo, Corradi, Chiara, Sainz, Juan, Niazi, Yasmeen, ter Horst, Rob, Li, Yang, Netea, Mihai G., Vogel, Ulla, Hemminki, Kari, Slager, Susan L., Varkonyi, Judit, Andersen, Vibeke, Iskierka-Jazdzewska, Elzbieta, Mártinez-Lopez, Joaquin, Zaucha, Jan, Camp, Nicola J., Rajkumar, S. Vincent, Druzd-Sitek, Agnieszka, Bhatti, Parveen, Chanock, Stephen J., Kumar, Shaji K., Subocz, Edyta, Mazur, Grzegorz, Landi, Stefano, Machiela, Mitchell J., Jerez, Andrés, Norman, Aaron D., Hildebrandt, Michelle A. T., Kadar, Katalin, Berndt, Sonja I., Ziv, Elad, Buda, Gabriele, Nagler, Arnon, Dumontet, Charles, Raźny, Malgorzata, Watek, Marzena, Butrym, Aleksandra, Grzasko, Norbert, Dudzinski, Marek, Rybicka-Ramos, Malwina, Matera, Eva-Laure, García-Sanz, Ramón, Goldschmidt, Hartmut, Jamroziak, Krzysztof, Jurczyszyn, Artur, Clavero, Esther, Giles, Graham G., Pelosini, Matteo, Zawirska, Daria, Kruszewski, Marcin, Marques, Herlander, Haastrup, Eva, Sánchez-Maldonado, José Manuel, Bertsch, Uta, Rymko, Marcin, Raab, Marc-Steffen, Brown, Elizabeth E., Hofmann, Jonathan N., Vachon, Celine, Campa, Daniele, and Canzian, Federico

Published
2023
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6. Evaluation of 4 prognostic indices in follicular lymphoma treated in first line with immunochemotherapy

Author

Rodríguez-Sevilla, Juan Jose, Fernández-Rodríguez, Concepción, Bento, Leyre, Diez-Feijóo, Ramón, Pinzón, Sergio, Gibert, Joan, Fernández-Ibarrondo, Lierni, Lafuente, Marta, Ferrer, Ana, Sánchez-González, Blanca, Gimeno, Eva, Sainz, Juan, Ramos, Rafael, García, Juan F., Colomo, Lluis, Bellosillo, Beatriz, Gutiérrez, Antonio, and Salar, Antonio

Published
2023
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8. A polygenic risk score for multiple myeloma risk prediction

Author

Canzian, Federico, Piredda, Chiara, Macauda, Angelica, Zawirska, Daria, Andersen, Niels Frost, Nagler, Arnon, Zaucha, Jan Maciej, Mazur, Grzegorz, Dumontet, Charles, Wątek, Marzena, Jamroziak, Krzysztof, Sainz, Juan, Várkonyi, Judit, Butrym, Aleksandra, Beider, Katia, Abildgaard, Niels, Lesueur, Fabienne, Dudziński, Marek, Vangsted, Annette Juul, Pelosini, Matteo, Subocz, Edyta, Petrini, Mario, Buda, Gabriele, Raźny, Małgorzata, Gemignani, Federica, Marques, Herlander, Orciuolo, Enrico, Kadar, Katalin, Jurczyszyn, Artur, Druzd-Sitek, Agnieszka, Vogel, Ulla, Andersen, Vibeke, Reis, Rui Manuel, Suska, Anna, Avet-Loiseau, Hervé, Kruszewski, Marcin, Tomczak, Waldemar, Rymko, Marcin, Minvielle, Stephane, and Campa, Daniele

Published
2022
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10. Principal Bioactive Properties of Oleanolic Acid, Its Derivatives, and Analogues.

Author

Jannus, Fatin, Sainz, Juan, and Reyes-Zurita, Fernando J.

Subjects
*ENDOCRINE diseases, *BACTERIAL diseases, *NATURAL products, *VIRUS diseases, *ANTINEOPLASTIC agents
Abstract

Natural products have always played an important role in pharmacotherapy, helping to control pathophysiological processes associated with human disease. Thus, natural products such as oleanolic acid (OA), a pentacyclic triterpene that has demonstrated important activities in several disease models, are in high demand. The relevant properties of this compound have motivated re-searchers to search for new analogues and derivatives using the OA as a scaffold to which new functional groups have been added or modifications have been realized. OA and its derivatives have been shown to be effective in the treatment of inflammatory processes, triggered by chronic diseases or bacterial and viral infections. OA and its derivatives have also been found to be effective in diabetic disorders, a group of common endocrine diseases characterized by hyperglycemia that can affect several organs, including the liver and brain. This group of compounds has been reported to exhibit significant bioactivity against cancer processes in vitro and in vivo. In this review, we summarize the bioactive properties of OA and its derivatives as anti-inflammatory, anti-bacterial, antiviral, anti-diabetic, hepatoprotective, neuroprotective, and anticancer agents. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Modulating anti-inflammatory and anticancer properties by designing a family of metal-complexes based on 5-nitropicolinic acid.

Author

García-García, Amalia, Medina-O'donnell, Marta, Rojas, Sara, Cano-Morenilla, Mariola, Morales, Juan, Quesada-Moreno, María Mar, Sainz, Juan, Vitorica-Yrezabal, Iñigo J., Rodríguez-Diéguez, Antonio, Navarro, Amparo, and Reyes-Zurita, Fernando J.

Subjects
TRANSITION metals, TIME-dependent density functional theory, LUMINESCENCE, COLON cancer, LIVER cancer, COPPER
Abstract

A new family of six complexes based on 5-nitropicolinic acid (5-npic) and transition metals has been obtained: [M(5-npic)2]n (MII = Mn (1) and Cd (2)), [Cu(5-npic)2]n (3), and [M(5-npic)2(H2O)2] (MII = Co (4), Ni (5), and Zn (6)), which display 1D, 2D, and mononuclear structures, respectively, thanks to different coordination modes of 5-npic. After their physicochemical characterization by single-crystal X-ray diffractio (SCXRD), elemental analyses (EA), and spectroscopic techniques, quantum chemical calculations using Time-Dependent Density Functional Theory (TD-DFT) were performed to further study the luminescence properties of compounds 2 and 6. The potential anticancer activity of all complexes was tested against three tumor cell lines, B16-F10, HT29, and HepG2, which are models widely used for studying melanoma, colon cancer, and liver cancer, respectively. The best results were found for compounds 2 and 4 against B16-F10 (IC50 = 26.94 and 45.10 µg mL-1, respectively). In addition, anti-inflammatory studies using RAW 264.7 cells exhibited promising activity for 2, 3, and 6 (IC50 NO = 5.38, 24.10, and 17.63 µg mL-1, respectively). This multidisciplinary study points to complex 2, based on CdII, as a promising anticancer and anti-inflammatory material. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Validation and functional characterization of GWAS-identified variants for chronic lymphocytic leukemia: a CRuCIAL study

Author

García-Martín, Paloma, Díez, Ana Moñiz, Maldonado, José Manuel Sánchez, Serrano, Antonio José Cabrera, ter Horst, Rob, Benavente, Yolanda, Landi, Stefano, Macauda, Angelica, Clay-Gilmour, Alyssa, Hernández-Mohedo, Francisca, Niazi, Yasmeen, González-Sierra, Pedro, Espinet, Blanca, Rodríguez-Sevilla, Juan José, Maffei, Rossana, Blanco, Gonzalo, Giaccherini, Matteo, Puiggros, Anna, Cerhan, James, Marasca, Roberto, Cañadas-Garre, Marisa, López-Nevot, Miguel Ángel, Chen-Liang, Tzu, Thomsen, Hauke, Gámez, Irene, Moreno, Víctor, Marcos-Gragera, Rafael, García-Álvarez, María, Llorca, Javier, Jerez, Andrés, Berndt, Sonja, Butrym, Aleksandra, Norman, Aaron D., Casabonne, Delphine, Luppi, Mario, Slager, Susan L., Hemminki, Kari, Li, Yang, Alcoceba, Miguel, Campa, Daniele, Canzian, Federico, de Sanjosé, Silvia, Försti, Asta, Netea, Mihai G., Jurado, Manuel, and Sainz, Juan

Published
2022
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15. Metabolomics signature as a survival predictor in patients with resectable colorectal liver metastasis

Author

González‐Olmedo, Carmen, primary, García‐Verdejo, Francisco José, additional, Reguera‐Teba, Antonio, additional, Rosa‐Garrido, Carmen, additional, López‐López, José Antonio, additional, Díaz‐Beltrán, Leticia, additional, García, Patricia Mena, additional, Luque‐Caro, Natalia, additional, Gálvez‐Montosa, Fernando, additional, Ortega‐Granados, Ana Laura, additional, Ruiz‐Sanjuan, María, additional, Cózar‐Ibáñez, Antonio, additional, Sainz, Juan, additional, Marchal, Juan Antonio, additional, Camacho, José, additional, del Palacio, José Pérez, additional, Fernández‐Godino, Rosario, additional, Díaz, Caridad, additional, and Sánchez‐Rovira, Pedro, additional

Published
2024
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17. Genome-wide association study identifies variants at 16p13 associated with survival in multiple myeloma patients.

Author

Dean, Eric, Hu, Donglei, Martino, Alessandro, Serie, Daniel, Curtin, Karen, Campa, Daniele, Aftab, Blake, Bracci, Paige, Buda, Gabriele, Zhao, Yi, Caswell-Jin, Jennifer, Diasio, Robert, Dumontet, Charles, Dudziński, Marek, Greenberg, Alexandra, Huntsman, Scott, Jamroziak, Krzysztof, Jurczyszyn, Artur, Kumar, Shaji, Atanackovic, Djordje, Glenn, Martha, Cannon-Albright, Lisa, Jones, Brandt, Lee, Adam, Marques, Herlander, Martin, Thomas, Martinez-Lopez, Joaquin, Rajkumar, Vincent, Sainz, Juan, Vangsted, Annette, Wątek, Marzena, Wolf, Jeffrey, Slager, Susan, Camp, Nicola, Canzian, Federico, Vachon, Celine, Ziv, Elad, and Fejerman, Laura

Subjects
Chromosomes, Human, Pair 16, Genome-Wide Association Study, Humans, Kaplan-Meier Estimate, Multiple Myeloma, Polymorphism, Single Nucleotide
Abstract

Here we perform the first genome-wide association study (GWAS) of multiple myeloma (MM) survival. In a meta-analysis of 306 MM patients treated at UCSF and 239 patients treated at the Mayo clinic, we find a significant association between SNPs near the gene FOPNL on chromosome 16p13 and survival (rs72773978; P=6 × 10(-10)). Patients with the minor allele are at increased risk for mortality (HR: 2.65; 95% CI: 1.94-3.58) relative to patients homozygous for the major allele. We replicate the association in the IMMEnSE cohort including 772 patients, and a University of Utah cohort including 318 patients (rs72773978 P=0.044). Using publicly available data, we find that the minor allele was associated with increased expression of FOPNL and increased expression of FOPNL was associated with higher expression of centrosomal genes and with shorter survival. Polymorphisms at the FOPNL locus are associated with survival among MM patients.

Published
2015

19. Genetically determined telomere length and multiple myeloma risk and outcome

Author

Giaccherini, Matteo, Macauda, Angelica, Orciuolo, Enrico, Rymko, Marcin, Gruenpeter, Karolina, Dumontet, Charles, Raźny, Malgorzata, Moreno, Victor, Buda, Gabriele, Beider, Katia, Varkonyi, Judit, Avet-Loiseau, Hervé, Martinez-Lopez, Joaquín, Marques, Herlander, Watek, Marzena, Sarasquete, Maria Eugenia, Andersen, Vibeke, Karlin, Lionel, Suska, Anna, Kruszewski, Marcin, Abildgaard, Niels, Dudziński, Marek, Butrym, Aleksandra, Nagler, Arnold, Vangsted, Annette Juul, Kadar, Katalin, Waldemar, Tomczak, Jamroziak, Krzysztof, Jacobsen, Svend Erik Hove, Ebbesen, Lene Hyldahl, Taszner, Michał, Mazur, Grzegorz, Lesueur, Fabienne, Pelosini, Matteo, Garcia-Sanz, Ramon, Jurczyszyn, Artur, Demangel, Delphine, Reis, Rui Manuel, Iskierka-Jażdżewska, Elżbieta, Markiewicz, Miroslaw, Gemignani, Federica, Subocz, Edyta, Zawirska, Daria, Druzd-Sitek, Agnieszka, Stępień, Anna, Alonso, M. Henar, Sainz, Juan, Canzian, Federico, and Campa, Daniele

Published
2021
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20. Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma

Author

Pertesi, Maroulio, Vallée, Maxime, Wei, Xiaomu, Revuelta, Maria V., Galia, Perrine, Demangel, Delphine, Oliver, Javier, Foll, Matthieu, Chen, Siwei, Perrial, Emeline, Garderet, Laurent, Corre, Jill, Leleu, Xavier, Boyle, Eileen M., Decaux, Olivier, Rodon, Philippe, Kolb, Brigitte, Slama, Borhane, Mineur, Philippe, Voog, Eric, Le Bris, Catherine, Fontan, Jean, Maigre, Michel, Beaumont, Marie, Azais, Isabelle, Sobol, Hagay, Vignon, Marguerite, Royer, Bruno, Perrot, Aurore, Fuzibet, Jean-Gabriel, Dorvaux, Véronique, Anglaret, Bruno, Cony-Makhoul, Pascale, Berthou, Christian, Desquesnes, Florence, Pegourie, Brigitte, Leyvraz, Serge, Mosser, Laurent, Frenkiel, Nicole, Augeul-Meunier, Karine, Leduc, Isabelle, Leyronnas, Cécile, Voillat, Laurent, Casassus, Philippe, Mathiot, Claire, Cheron, Nathalie, Paubelle, Etienne, Moreau, Philippe, Bignon, Yves–Jean, Joly, Bertrand, Bourquard, Pascal, Caillot, Denis, Naman, Hervé, Rigaudeau, Sophie, Marit, Gérald, Macro, Margaret, Lambrecht, Isabelle, Cliquennois, Manuel, Vincent, Laure, Helias, Philippe, Avet-Loiseau, Hervé, Moreno, Victor, Reis, Rui Manuel, Varkonyi, Judit, Kruszewski, Marcin, Vangsted, Annette Juul, Jurczyszyn, Artur, Zaucha, Jan Maciej, Sainz, Juan, Krawczyk-Kulis, Malgorzata, Wątek, Marzena, Pelosini, Matteo, Iskierka-Jażdżewska, Elzbieta, Grząśko, Norbert, Martinez-Lopez, Joaquin, Jerez, Andrés, Campa, Daniele, Buda, Gabriele, Lesueur, Fabienne, Dudziński, Marek, García-Sanz, Ramón, Nagler, Arnon, Rymko, Marcin, Jamroziak, Krzysztof, Butrym, Aleksandra, Canzian, Federico, Obazee, Ofure, Nilsson, Björn, Klein, Robert J., Lipkin, Steven M., McKay, James D., and Dumontet, Charles

Published
2019
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21. Polymorphisms at phase I-metabolizing enzyme and hormone receptor loci influence the response to anti-TNF therapy in rheumatoid arthritis patients

Author

Canet, Luz M., Sánchez-Maldonado, Jose M., Cáliz, Rafael, Rodríguez-Ramos, Ana, Lupiañez, Carmen B., Canhão, Helena, Martínez-Bueno, Manuel, Escudero, Alejandro, Segura-Catena, Juana, Sorensen, Signe B, Hetland, Merete L, Soto-Pino, María José, Ferrer, Miguel A., García, Antonio, Glintborg, Bente, Filipescu, Ileana, Pérez-Pampin, Eva, González-Utrilla, Alfonso, Nevot, Miguel Ángel López, Conesa-Zamora, Pablo, Broeder, Alfons den, De Vita, Salvatore, Jacobsen, Sven Erik Hobe, Collantes-Estevez, Eduardo, Quartuccio, Luca, Canzian, Federico, Fonseca, João E., Coenen, Marieke J. H., Andersen, Vibeke, and Sainz, Juan

Published
2019
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22. Barreras Invisibles : Jóvenes, pobreza y violencia

Author

Castillo-Valencia, María, Restrepo, Diana Marcela Jiménez, Calderón, Ángela María Franco, Salazar, Boris, Hurtado, María Isbel Caicedo, Sáinz, Juan Pablo Pérez, Prólogo, Castillo-Valencia, María, Restrepo, Diana Marcela Jiménez, Calderón, Ángela María Franco, Salazar, Boris, Hurtado, María Isbel Caicedo, and Sáinz, Juan Pablo Pérez

Published
2022
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25. Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms

Author

Giaccherini, Matteo, Macauda, Angelica, Sgherza, Nicola, Sainz, Juan, Gemignani, Federica, Maldonado, Josè Manuel Sanchez, Jurado, Manuel, Tavano, Francesca, Mazur, Grzegorz, Jerez, Andrés, Góra-Tybor, Joanna, Gołos, Aleksandra, Mohedo, Francisca Hernández, Lopez, Joaquin Martinez, Várkonyi, Judit, Spadano, Raffaele, Butrym, Aleksandra, Canzian, Federico, and Campa, Daniele

Published
2020
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26. NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

Author

Manuel Sánchez-Maldonado, Jose, Martínez-Bueno, Manuel, Canhão, Helena, ter Horst, Rob, Muñoz-Peña, Sonia, Moñiz-Díez, Ana, Rodríguez-Ramos, Ana, Escudero, Alejandro, Sorensen, Signe B., Hetland, Merete L., Ferrer, Miguel A., Glintborg, Bente, Filipescu, Ileana, Pérez-Pampin, Eva, Conesa-Zamora, Pablo, García, Antonio, den Broeder, Alfons, De Vita, Salvatore, Hove Jacobsen, Svend Erik, Collantes, Eduardo, Quartuccio, Luca, Netea, Mihai G., Li, Yang, Fonseca, João E., Jurado, Manuel, López-Nevot, Miguel Ángel, Coenen, Marieke J. H., Andersen, Vibeke, Cáliz, Rafael, and Sainz, Juan

Published
2020
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28. Polymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma: A Meta-Analysis of Three Large Cohorts and Functional Characterization

Author

Clavero, Esther, primary, Sanchez-Maldonado, José Manuel, additional, Macauda, Angelica, additional, Ter Horst, Rob, additional, Sampaio-Marques, Belém, additional, Jurczyszyn, Artur, additional, Clay-Gilmour, Alyssa, additional, Stein, Angelika, additional, Hildebrandt, Michelle A. T., additional, Weinhold, Niels, additional, Buda, Gabriele, additional, García-Sanz, Ramón, additional, Tomczak, Waldemar, additional, Vogel, Ulla, additional, Jerez, Andrés, additional, Zawirska, Daria, additional, Wątek, Marzena, additional, Hofmann, Jonathan N., additional, Landi, Stefano, additional, Spinelli, John J., additional, Butrym, Aleksandra, additional, Kumar, Abhishek, additional, Martínez-López, Joaquín, additional, Galimberti, Sara, additional, Sarasquete, María Eugenia, additional, Subocz, Edyta, additional, Iskierka-Jażdżewska, Elzbieta, additional, Giles, Graham G., additional, Rybicka-Ramos, Malwina, additional, Kruszewski, Marcin, additional, Abildgaard, Niels, additional, Verdejo, Francisco García, additional, Sánchez Rovira, Pedro, additional, da Silva Filho, Miguel Inacio, additional, Kadar, Katalin, additional, Razny, Małgorzata, additional, Cozen, Wendy, additional, Pelosini, Matteo, additional, Jurado, Manuel, additional, Bhatti, Parveen, additional, Dudzinski, Marek, additional, Druzd-Sitek, Agnieszka, additional, Orciuolo, Enrico, additional, Li, Yang, additional, Norman, Aaron D., additional, Zaucha, Jan Maciej, additional, Reis, Rui Manuel, additional, Markiewicz, Miroslaw, additional, Rodríguez Sevilla, Juan José, additional, Andersen, Vibeke, additional, Jamroziak, Krzysztof, additional, Hemminki, Kari, additional, Berndt, Sonja I., additional, Rajkumar, Vicent, additional, Mazur, Grzegorz, additional, Kumar, Shaji K., additional, Ludovico, Paula, additional, Nagler, Arnon, additional, Chanock, Stephen J., additional, Dumontet, Charles, additional, Machiela, Mitchell J., additional, Varkonyi, Judit, additional, Camp, Nicola J., additional, Ziv, Elad, additional, Vangsted, Annette Juul, additional, Brown, Elizabeth E., additional, Campa, Daniele, additional, Vachon, Celine M., additional, Netea, Mihai G., additional, Canzian, Federico, additional, Försti, Asta, additional, and Sainz, Juan, additional

Published
2023
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29. Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression?

Author

Cabrera-Serrano, Antonio José, primary, Sánchez-Maldonado, José Manuel, additional, ter Horst, Rob, additional, Macauda, Angelica, additional, García-Martín, Paloma, additional, Benavente, Yolanda, additional, Landi, Stefano, additional, Clay-Gilmour, Alyssa, additional, Niazi, Yasmeen, additional, Espinet, Blanca, additional, Rodríguez-Sevilla, Juan José, additional, Pérez, Eva María, additional, Maffei, Rossana, additional, Blanco, Gonzalo, additional, Giaccherini, Matteo, additional, Cerhan, James R., additional, Marasca, Roberto, additional, López-Nevot, Miguel Ángel, additional, Chen-Liang, Tzu, additional, Thomsen, Hauke, additional, Gámez, Irene, additional, Campa, Daniele, additional, Moreno, Víctor, additional, de Sanjosé, Silvia, additional, Marcos-Gragera, Rafael, additional, García-Álvarez, María, additional, Dierssen-Sotos, Trinidad, additional, Jerez, Andrés, additional, Butrym, Aleksandra, additional, Norman, Aaron D., additional, Luppi, Mario, additional, Slager, Susan L., additional, Hemminki, Kari, additional, Li, Yang, additional, Berndt, Sonja I., additional, Casabonne, Delphine, additional, Alcoceba, Miguel, additional, Puiggros, Anna, additional, Netea, Mihai G., additional, Försti, Asta, additional, Canzian, Federico, additional, and Sainz, Juan, additional

Published
2023
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30. GWAS-Identified Variants for Obesity Do Not Influence the Risk of Developing Multiple Myeloma: A Population-Based Study and Meta-Analysis

Author

Sánchez-Maldonado, José Manuel, primary, Cabrera-Serrano, Antonio José, additional, Chattopadhyay, Subhayan, additional, Campa, Daniele, additional, Garrido, María del Pilar, additional, Macauda, Angelica, additional, Ter Horst, Rob, additional, Jerez, Andrés, additional, Netea, Mihai G., additional, Li, Yang, additional, Hemminki, Kari, additional, Canzian, Federico, additional, Försti, Asta, additional, and Sainz, Juan, additional

Published
2023
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31. GWAS-Identified Variants for Obesity Do Not Influence the Risk of Developing Multiple Myeloma: A Population-Based Study and Meta-Analysis

Author

Sanchez-Maldonado, Jose M., Cabrera-Serrano, Antonio Jose, Chattopadhyay, Subhayan, Campa, D., Garrido, Maria del Pilar, Macauda, A., Horst, R. ter, Netea, M.G., Li, Y., Försti, A., Sainz, Juan, Sanchez-Maldonado, Jose M., Cabrera-Serrano, Antonio Jose, Chattopadhyay, Subhayan, Campa, D., Garrido, Maria del Pilar, Macauda, A., Horst, R. ter, Netea, M.G., Li, Y., Försti, A., and Sainz, Juan

Abstract

Item does not contain fulltext

Published
2023

32. Polymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma:A Meta-Analysis of Three Large Cohorts and Functional Characterization

Author

Clavero, Esther, Sanchez-Maldonado, José Manuel, Macauda, Angelica, Ter Horst, Rob, Sampaio-Marques, Belém, Jurczyszyn, Artur, Clay-Gilmour, Alyssa, Stein, Angelika, Hildebrandt, Michelle A.T., Weinhold, Niels, Buda, Gabriele, García-Sanz, Ramón, Tomczak, Waldemar, Vogel, Ulla, Jerez, Andrés, Zawirska, Daria, Wątek, Marzena, Hofmann, Jonathan N., Landi, Stefano, Spinelli, John J., Butrym, Aleksandra, Kumar, Abhishek, Martínez-López, Joaquín, Galimberti, Sara, Sarasquete, María Eugenia, Subocz, Edyta, Iskierka-Jażdżewska, Elzbieta, Giles, Graham G., Rybicka-Ramos, Malwina, Kruszewski, Marcin, Abildgaard, Niels, Verdejo, Francisco García, Sánchez Rovira, Pedro, da Silva Filho, Miguel Inacio, Kadar, Katalin, Razny, Małgorzata, Cozen, Wendy, Pelosini, Matteo, Jurado, Manuel, Bhatti, Parveen, Dudzinski, Marek, Druzd-Sitek, Agnieszka, Orciuolo, Enrico, Li, Yang, Norman, Aaron D., Zaucha, Jan Maciej, Reis, Rui Manuel, Markiewicz, Miroslaw, Rodríguez Sevilla, Juan José, Andersen, Vibeke, Jamroziak, Krzysztof, Hemminki, Kari, Berndt, Sonja I., Rajkumar, Vicent, Mazur, Grzegorz, Kumar, Shaji K., Ludovico, Paula, Nagler, Arnon, Chanock, Stephen J., Dumontet, Charles, Machiela, Mitchell J., Varkonyi, Judit, Camp, Nicola J., Ziv, Elad, Vangsted, Annette Juul, Brown, Elizabeth E., Campa, Daniele, Vachon, Celine M., Netea, Mihai G., Canzian, Federico, Försti, Asta, Sainz, Juan, Clavero, Esther, Sanchez-Maldonado, José Manuel, Macauda, Angelica, Ter Horst, Rob, Sampaio-Marques, Belém, Jurczyszyn, Artur, Clay-Gilmour, Alyssa, Stein, Angelika, Hildebrandt, Michelle A.T., Weinhold, Niels, Buda, Gabriele, García-Sanz, Ramón, Tomczak, Waldemar, Vogel, Ulla, Jerez, Andrés, Zawirska, Daria, Wątek, Marzena, Hofmann, Jonathan N., Landi, Stefano, Spinelli, John J., Butrym, Aleksandra, Kumar, Abhishek, Martínez-López, Joaquín, Galimberti, Sara, Sarasquete, María Eugenia, Subocz, Edyta, Iskierka-Jażdżewska, Elzbieta, Giles, Graham G., Rybicka-Ramos, Malwina, Kruszewski, Marcin, Abildgaard, Niels, Verdejo, Francisco García, Sánchez Rovira, Pedro, da Silva Filho, Miguel Inacio, Kadar, Katalin, Razny, Małgorzata, Cozen, Wendy, Pelosini, Matteo, Jurado, Manuel, Bhatti, Parveen, Dudzinski, Marek, Druzd-Sitek, Agnieszka, Orciuolo, Enrico, Li, Yang, Norman, Aaron D., Zaucha, Jan Maciej, Reis, Rui Manuel, Markiewicz, Miroslaw, Rodríguez Sevilla, Juan José, Andersen, Vibeke, Jamroziak, Krzysztof, Hemminki, Kari, Berndt, Sonja I., Rajkumar, Vicent, Mazur, Grzegorz, Kumar, Shaji K., Ludovico, Paula, Nagler, Arnon, Chanock, Stephen J., Dumontet, Charles, Machiela, Mitchell J., Varkonyi, Judit, Camp, Nicola J., Ziv, Elad, Vangsted, Annette Juul, Brown, Elizabeth E., Campa, Daniele, Vachon, Celine M., Netea, Mihai G., Canzian, Federico, Försti, Asta, and Sainz, Juan

Abstract

Multiple myeloma (MM) arises following malignant proliferation of plasma cells in the bone marrow, that secrete high amounts of specific monoclonal immunoglobulins or light chains, resulting in the massive production of unfolded or misfolded proteins. Autophagy can have a dual role in tumorigenesis, by eliminating these abnormal proteins to avoid cancer development, but also ensuring MM cell survival and promoting resistance to treatments. To date no studies have determined the impact of genetic variation in autophagy-related genes on MM risk. We performed meta-analysis of germline genetic data on 234 autophagy-related genes from three independent study populations including 13,387 subjects of European ancestry (6863 MM patients and 6524 controls) and examined correlations of statistically significant single nucleotide polymorphisms (SNPs; p < 1 × 10−9) with immune responses in whole blood, peripheral blood mononuclear cells (PBMCs), and monocyte-derived macrophages (MDM) from a large population of healthy donors from the Human Functional Genomic Project (HFGP). We identified SNPs in six loci, CD46, IKBKE, PARK2, ULK4, ATG5, and CDKN2A associated with MM risk (p = 4.47 × 10−4−5.79 × 10−14). Mechanistically, we found that the ULK4rs6599175 SNP correlated with circulating concentrations of vitamin D3 (p = 4.0 × 10−4), whereas the IKBKErs17433804 SNP correlated with the number of transitional CD24+CD38+ B cells (p = 4.8 × 10−4) and circulating serum concentrations of Monocyte Chemoattractant Protein (MCP)-2 (p = 3.6 × 10−4). We also found that the CD46rs1142469 SNP correlated with numbers of CD19+ B cells, CD19+CD3− B cells, CD5+IgD− cells, IgM− cells, IgD−IgM− cells, and CD4−CD8− PBMCs (p = 4.9 × 10−4−8.6 × 10−4)

Published
2023

33. A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk

Author

Dicanio, Marco, Giaccherini, Matteo, Clay-Gilmour, Alyssa, Macauda, Angelica, Sainz, Juan, Machiela, Mitchell J., Rybicka-Ramos, Malwina, Norman, Aaron D., Tyczyńska, Agata, Chanock, Stephen J., Barington, Torben, Kumar, Shaji K., Bhatti, Parveen, Cozen, Wendy, Brown, Elizabeth E., Suska, Anna, Haastrup, Eva K., Orlowski, Robert Z., Dudziński, Marek, Garcia-Sanz, Ramon, Kruszewski, Marcin, Martinez-Lopez, Joaquin, Beider, Katia, Iskierka-Jazdzewska, Elżbieta, Pelosini, Matteo, Berndt, Sonja I., Raźny, Małgorzata, Jamroziak, Krzysztof, Rajkumar, S. Vincent, Jurczyszyn, Artur, Vangsted, Annette Juul, Collado, Pilar Garrido, Vogel, Ulla, Hofmann, Jonathan N., Petrini, Mario, Butrym, Aleksandra, Slager, Susan L., Ziv, Elad, Subocz, Edyta, Giles, Graham G., Andersen, Niels Frost, Mazur, Grzegorz, Watek, Marzena, Lesueur, Fabienne, Hildebrandt, Michelle A.T., Zawirska, Daria, Ebbesen, Lene Hyldahl, Marques, Herlander, Gemignani, Federica, Dumontet, Charles, Várkonyi, Judit, Buda, Gabriele, Nagler, Arnon, Druzd-Sitek, Agnieszka, Wu, Xifeng, Kadar, Katalin, Camp, Nicola J., Grzasko, Norbert, Waller, Rosalie G., Vachon, Celine, Canzian, Federico, Campa, Daniele, Dicanio, Marco, Giaccherini, Matteo, Clay-Gilmour, Alyssa, Macauda, Angelica, Sainz, Juan, Machiela, Mitchell J., Rybicka-Ramos, Malwina, Norman, Aaron D., Tyczyńska, Agata, Chanock, Stephen J., Barington, Torben, Kumar, Shaji K., Bhatti, Parveen, Cozen, Wendy, Brown, Elizabeth E., Suska, Anna, Haastrup, Eva K., Orlowski, Robert Z., Dudziński, Marek, Garcia-Sanz, Ramon, Kruszewski, Marcin, Martinez-Lopez, Joaquin, Beider, Katia, Iskierka-Jazdzewska, Elżbieta, Pelosini, Matteo, Berndt, Sonja I., Raźny, Małgorzata, Jamroziak, Krzysztof, Rajkumar, S. Vincent, Jurczyszyn, Artur, Vangsted, Annette Juul, Collado, Pilar Garrido, Vogel, Ulla, Hofmann, Jonathan N., Petrini, Mario, Butrym, Aleksandra, Slager, Susan L., Ziv, Elad, Subocz, Edyta, Giles, Graham G., Andersen, Niels Frost, Mazur, Grzegorz, Watek, Marzena, Lesueur, Fabienne, Hildebrandt, Michelle A.T., Zawirska, Daria, Ebbesen, Lene Hyldahl, Marques, Herlander, Gemignani, Federica, Dumontet, Charles, Várkonyi, Judit, Buda, Gabriele, Nagler, Arnon, Druzd-Sitek, Agnieszka, Wu, Xifeng, Kadar, Katalin, Camp, Nicola J., Grzasko, Norbert, Waller, Rosalie G., Vachon, Celine, Canzian, Federico, and Campa, Daniele

Abstract

Pleiotropy, which consists of a single gene or allelic variant affecting multiple unrelated traits, is common across cancers, with evidence for genome-wide significant loci shared across cancer and noncancer traits. This feature is particularly relevant in multiple myeloma (MM) because several susceptibility loci that have been identified to date are pleiotropic. Therefore, the aim of this study was to identify novel pleiotropic variants involved in MM risk using 28 684 independent single nucleotide polymorphisms (SNPs) from GWAS Catalog that reached a significant association (P < 5 × 10−8) with their respective trait. The selected SNPs were analyzed in 2434 MM cases and 3446 controls from the International Lymphoma Epidemiology Consortium (InterLymph). The 10 SNPs showing the strongest associations with MM risk in InterLymph were selected for replication in an independent set of 1955 MM cases and 1549 controls from the International Multiple Myeloma rESEarch (IMMEnSE) consortium and 418 MM cases and 147 282 controls from the FinnGen project. The combined analysis of the three studies identified an association between DNAJB4-rs34517439-A and an increased risk of developing MM (OR = 1.22, 95%CI 1.13-1.32, P = 4.81 × 10−7). rs34517439-A is associated with a modified expression of the FUBP1 gene, which encodes a multifunctional DNA and RNA-binding protein that it was observed to influence the regulation of various genes involved in cell cycle regulation, among which various oncogenes and oncosuppressors. In conclusion, with a pleiotropic scan approach we identified DNAJB4-rs34517439 as a potentially novel MM risk locus.

Published
2023

34. Polymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma: A Meta-Analysis of Three Large Cohorts and Functional Characterization

Author

European Commission, Instituto de Salud Carlos III, Fundación CRIS contra el Cáncer, Dietmar Hopp Foundation, Federal Ministry of Education and Research (Germany), Fundação para a Ciência e a Tecnologia (Portugal), Clavero, Esther, Sanchez-Maldonado, José Manuel, Macauda, Angélica, Ter Horst, Rob, Sampaio-Marques, Belém, Jurczyszyn, Artur, Clay-Gilmour, Alyssa, Stein, Angelika, Hildebrandt, Michelle A. T., Weinhold, Niels, Buda, Gabriele, García-Sanz, Ramón, Tomczak, Waldemar, Vogel, Ulla, Jerez, Andrés, Zawirska, Daria, Wątek, Marzena, Hofmann, Jonathan N., Landi, Stefano, Spinelli, John J., Butrym, Aleksandra, Kumar, Abhishek, Martínez-López, Joaquín, Galimberti, Sara, Sarasquete, María Eugenia, Subocz, Edyta, Iskierka-Jażdżewska, Elzbieta, Giles, Graham G., Rybicka-Ramos, Malwina, Kruszewski, Marcin, Abildgaard, Niels, Verdejo, Francisco García, Sánchez Rovira, Pedro, da Silva Filho, Miguel Inacio, Kadar, Katalin, Razny, Małgorzata, Cozen, Wendy, Pelosini, Matteo, Jurado, Manuel, Bhatti, Parveen, Dudzinski, Marek, Druzd-Sitek, Agnieszka, Orciuolo, Enrico, Li, Yang, Norman, Aaron D, Zaucha, Jan Maciej, Reis, Rui Manuel, Markiewicz, Miroslaw, Rodríguez Sevilla, Juan José, Andersen, Vibeke, Jamroziak, Krzysztof, Hemminki, Kari, Berndt, Sonja I., Rajkumar, Vicent, Mazur, Grzegorz, Kumar, Shaji K., Ludovico, Paula, Nagler, Arnon, Chanock, Stephen J., Dumontet, Charles, Machiela, Mitchell J., Varkonyi, Judit, Camp, Nicola J., Ziv, Elad, Vangsted, Annette Juul, Brown, Elizabeth E., Campa, Daniele, Vachon, Celine M., Netea, Mihai G., Canzian, Federico, Försti, Asta, Sainz, Juan, European Commission, Instituto de Salud Carlos III, Fundación CRIS contra el Cáncer, Dietmar Hopp Foundation, Federal Ministry of Education and Research (Germany), Fundação para a Ciência e a Tecnologia (Portugal), Clavero, Esther, Sanchez-Maldonado, José Manuel, Macauda, Angélica, Ter Horst, Rob, Sampaio-Marques, Belém, Jurczyszyn, Artur, Clay-Gilmour, Alyssa, Stein, Angelika, Hildebrandt, Michelle A. T., Weinhold, Niels, Buda, Gabriele, García-Sanz, Ramón, Tomczak, Waldemar, Vogel, Ulla, Jerez, Andrés, Zawirska, Daria, Wątek, Marzena, Hofmann, Jonathan N., Landi, Stefano, Spinelli, John J., Butrym, Aleksandra, Kumar, Abhishek, Martínez-López, Joaquín, Galimberti, Sara, Sarasquete, María Eugenia, Subocz, Edyta, Iskierka-Jażdżewska, Elzbieta, Giles, Graham G., Rybicka-Ramos, Malwina, Kruszewski, Marcin, Abildgaard, Niels, Verdejo, Francisco García, Sánchez Rovira, Pedro, da Silva Filho, Miguel Inacio, Kadar, Katalin, Razny, Małgorzata, Cozen, Wendy, Pelosini, Matteo, Jurado, Manuel, Bhatti, Parveen, Dudzinski, Marek, Druzd-Sitek, Agnieszka, Orciuolo, Enrico, Li, Yang, Norman, Aaron D, Zaucha, Jan Maciej, Reis, Rui Manuel, Markiewicz, Miroslaw, Rodríguez Sevilla, Juan José, Andersen, Vibeke, Jamroziak, Krzysztof, Hemminki, Kari, Berndt, Sonja I., Rajkumar, Vicent, Mazur, Grzegorz, Kumar, Shaji K., Ludovico, Paula, Nagler, Arnon, Chanock, Stephen J., Dumontet, Charles, Machiela, Mitchell J., Varkonyi, Judit, Camp, Nicola J., Ziv, Elad, Vangsted, Annette Juul, Brown, Elizabeth E., Campa, Daniele, Vachon, Celine M., Netea, Mihai G., Canzian, Federico, Försti, Asta, and Sainz, Juan

Abstract

Multiple myeloma (MM) arises following malignant proliferation of plasma cells in the bone marrow, that secrete high amounts of specific monoclonal immunoglobulins or light chains, resulting in the massive production of unfolded or misfolded proteins. Autophagy can have a dual role in tumorigenesis, by eliminating these abnormal proteins to avoid cancer development, but also ensuring MM cell survival and promoting resistance to treatments. To date no studies have determined the impact of genetic variation in autophagy-related genes on MM risk. We performed meta-analysis of germline genetic data on 234 autophagy-related genes from three independent study populations including 13,387 subjects of European ancestry (6863 MM patients and 6524 controls) and examined correlations of statistically significant single nucleotide polymorphisms (SNPs; p < 1 × 10−9) with immune responses in whole blood, peripheral blood mononuclear cells (PBMCs), and monocyte-derived macrophages (MDM) from a large population of healthy donors from the Human Functional Genomic Project (HFGP). We identified SNPs in six loci, CD46, IKBKE, PARK2, ULK4, ATG5, and CDKN2A associated with MM risk (p = 4.47 × 10−4−5.79 × 10−14). Mechanistically, we found that the ULK4rs6599175 SNP correlated with circulating concentrations of vitamin D3 (p = 4.0 × 10−4), whereas the IKBKErs17433804 SNP correlated with the number of transitional CD24+CD38+ B cells (p = 4.8 × 10−4) and circulating serum concentrations of Monocyte Chemoattractant Protein (MCP)-2 (p = 3.6 × 10−4). We also found that the CD46rs1142469 SNP correlated with numbers of CD19+ B cells, CD19+CD3− B cells, CD5+IgD− cells, IgM− cells, IgD−IgM− cells, and CD4−CD8− PBMCs (p = 4.9 × 10−4−8.6 × 10−4) and circulating concentrations of interleukin (IL)-20 (p = 0.00082). Finally, we observed that the CDKN2Ars2811710 SNP correlated with levels of CD4+EMCD45RO+CD27− cells (p = 9.3 × 10−4). These results suggest that genetic variants within these six loci influ

Published
2023

35. Identification of novel genetic loci for risk of multiple myeloma by functional annotation

Author

European Commission, National Cancer Institute (US), National Institutes of Health (US), Projekt DEAL, Macauda, Angelica, Briem, Klara, Clay-Gilmour, Alyssa, Cozen, Wendy, Försti, Asta, Giaccherini, Matteo, Corradi, Chiara, Sainz, Juan, Niazi, Yasmeen, Ter Horst, Rob, Li, Yang, Netea, Mihai G., Vogel, Ulla, Hemminki, Kari, Slager, Susan L., Varkonyi, Judit, Andersen, Vibeke, Iskierka-Jazdzewska, Elżbieta, Martínez-López, Joaquín, Zaucha, Jan, Camp, Nicola J., Rajkumar, S. Vincent, Druzd-Sitek, Agnieszka, Bhatti, Parveen, Chanock, Stephen J., Kumar, Shaji K., Subocz, Edyta, Mazur, Grzegorz, Landi, Stefano, Machiela, Mitchell J., Jerez, Andrés, Norman, Aaron D., Hildebrandt, Michelle A. T., Kadar, Katalin, Berndt, Sonja I., Ziv, Elad, Buda, Gabriele, Nagler, Arnon, Dumontet, Charles, Raźny, Malgorzata, Watek, Marzena, Butrym, Aleksandra, Grzasko, Norbert, Dudzinski, Marek, Rybicka-Ramos, Malwina, Matera, Eva-Laure, García-Sanz, Ramón, Goldschmidt, Hartmut, Jamroziak, Krzysztof, Jurczyszyn, Artur, Clavero, Esther, Giles, Graham G., Pelosini, Matteo, Zawirska, Daria, Kruszewski, Marcin, Marques, Herlander, Haastrup, Eva, Sánchez Maldonado, José Manuel, Bertsch, Uta, Rymko, Marcin, Raab, Marc-Steffen, Brown, Elizabeth E., Hofmann, Jonathan N., Vachon, Celine, Campa, Daniele, Canzian, Federico, European Commission, National Cancer Institute (US), National Institutes of Health (US), Projekt DEAL, Macauda, Angelica, Briem, Klara, Clay-Gilmour, Alyssa, Cozen, Wendy, Försti, Asta, Giaccherini, Matteo, Corradi, Chiara, Sainz, Juan, Niazi, Yasmeen, Ter Horst, Rob, Li, Yang, Netea, Mihai G., Vogel, Ulla, Hemminki, Kari, Slager, Susan L., Varkonyi, Judit, Andersen, Vibeke, Iskierka-Jazdzewska, Elżbieta, Martínez-López, Joaquín, Zaucha, Jan, Camp, Nicola J., Rajkumar, S. Vincent, Druzd-Sitek, Agnieszka, Bhatti, Parveen, Chanock, Stephen J., Kumar, Shaji K., Subocz, Edyta, Mazur, Grzegorz, Landi, Stefano, Machiela, Mitchell J., Jerez, Andrés, Norman, Aaron D., Hildebrandt, Michelle A. T., Kadar, Katalin, Berndt, Sonja I., Ziv, Elad, Buda, Gabriele, Nagler, Arnon, Dumontet, Charles, Raźny, Malgorzata, Watek, Marzena, Butrym, Aleksandra, Grzasko, Norbert, Dudzinski, Marek, Rybicka-Ramos, Malwina, Matera, Eva-Laure, García-Sanz, Ramón, Goldschmidt, Hartmut, Jamroziak, Krzysztof, Jurczyszyn, Artur, Clavero, Esther, Giles, Graham G., Pelosini, Matteo, Zawirska, Daria, Kruszewski, Marcin, Marques, Herlander, Haastrup, Eva, Sánchez Maldonado, José Manuel, Bertsch, Uta, Rymko, Marcin, Raab, Marc-Steffen, Brown, Elizabeth E., Hofmann, Jonathan N., Vachon, Celine, Campa, Daniele, and Canzian, Federico

Abstract

Multiple myeloma (MM) is one of the most common hematological malignancies, accounting for 20% of all newly diagnosed hematological cancers [1]. The most recent data from Cancer Today show that in 2020 the number of new MM cases was 176,404 worldwide

Published
2023

36. A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk

Author

Università di Pisa, German Cancer Research Center, Dicanio, Marco, Giaccherini, Matteo, Clay-Gilmour, Alyssa, Macauda, Angelica, Sainz, Juan, Machiela, Mitchell J., Rybicka-Ramos, Malwina, Norman, Aaron D., Tyczyńska, Agata, Chanock, Stephen J., Barington, Torben, Kumar, Shaji K., Bhatti, Parveen, Cozen, Wendy, Brown, Elizabeth E., Suska, Anna, Haastrup, Eva K., Orlowski, R. Z., Dudziński, Marek, García-Sanz, Ramón, Kruszewski, Marcin, Martínez-López, Joaquín, Beider, Katia, Iskierka-Jazdzewska, Elżbieta, Pelosini, Matteo, Berndt, Sonja, Raźny, Małgorzata, Jamroziak, Krzysztof, Rajkumar, S. Vincent, Jurczyszyn, Artur, Vangsted, Annette Juul, Garrido, Pilar, Vogel, Ulla, Hofmann, Jonathan N., Petrini, Mario, Butrym, Aleksandra, Slager, Susan L., Ziv, Elad, Subocz, Edyta, Giles, Graham G., Frost Andersen, Niels, Mazur, Grzegorz, Watek, Marzena, Lesueur, Fabienne, Hildebrandt, Michelle A. T., Zawirska, Daria, Hyldahl Ebbesen, Lene, Marques, Herlander, Gemignani, Federica, Dumontet, Charles, Várkonyi, Judit, Buda, Gabriele, Nagler, Arnon, Druzd-Sitek, Agnieszka, Wu, Xifeng, Kadar, Katalin, Camp, Nicola J., Grzasko, Norbert, Waller, Rosalie G., Vachon, Celine, Canzian, Federico, Campa, Daniele, Università di Pisa, German Cancer Research Center, Dicanio, Marco, Giaccherini, Matteo, Clay-Gilmour, Alyssa, Macauda, Angelica, Sainz, Juan, Machiela, Mitchell J., Rybicka-Ramos, Malwina, Norman, Aaron D., Tyczyńska, Agata, Chanock, Stephen J., Barington, Torben, Kumar, Shaji K., Bhatti, Parveen, Cozen, Wendy, Brown, Elizabeth E., Suska, Anna, Haastrup, Eva K., Orlowski, R. Z., Dudziński, Marek, García-Sanz, Ramón, Kruszewski, Marcin, Martínez-López, Joaquín, Beider, Katia, Iskierka-Jazdzewska, Elżbieta, Pelosini, Matteo, Berndt, Sonja, Raźny, Małgorzata, Jamroziak, Krzysztof, Rajkumar, S. Vincent, Jurczyszyn, Artur, Vangsted, Annette Juul, Garrido, Pilar, Vogel, Ulla, Hofmann, Jonathan N., Petrini, Mario, Butrym, Aleksandra, Slager, Susan L., Ziv, Elad, Subocz, Edyta, Giles, Graham G., Frost Andersen, Niels, Mazur, Grzegorz, Watek, Marzena, Lesueur, Fabienne, Hildebrandt, Michelle A. T., Zawirska, Daria, Hyldahl Ebbesen, Lene, Marques, Herlander, Gemignani, Federica, Dumontet, Charles, Várkonyi, Judit, Buda, Gabriele, Nagler, Arnon, Druzd-Sitek, Agnieszka, Wu, Xifeng, Kadar, Katalin, Camp, Nicola J., Grzasko, Norbert, Waller, Rosalie G., Vachon, Celine, Canzian, Federico, and Campa, Daniele

Abstract

Pleiotropy, which consists of a single gene or allelic variant affecting multiple unrelated traits, is common across cancers, with evidence for genome-wide significant loci shared across cancer and noncancer traits. This feature is particularly relevant in multiple myeloma (MM) because several susceptibility loci that have been identified to date are pleiotropic. Therefore, the aim of this study was to identify novel pleiotropic variants involved in MM risk using 28 684 independent single nucleotide polymorphisms (SNPs) from GWAS Catalog that reached a significant association (P < 5 × 10−8) with their respective trait. The selected SNPs were analyzed in 2434 MM cases and 3446 controls from the International Lymphoma Epidemiology Consortium (InterLymph). The 10 SNPs showing the strongest associations with MM risk in InterLymph were selected for replication in an independent set of 1955 MM cases and 1549 controls from the International Multiple Myeloma rESEarch (IMMEnSE) consortium and 418 MM cases and 147 282 controls from the FinnGen project. The combined analysis of the three studies identified an association between DNAJB4-rs34517439-A and an increased risk of developing MM (OR = 1.22, 95%CI 1.13-1.32, P = 4.81 × 10−7). rs34517439-A is associated with a modified expression of the FUBP1 gene, which encodes a multifunctional DNA and RNA-binding protein that it was observed to influence the regulation of various genes involved in cell cycle regulation, among which various oncogenes and oncosuppressors. In conclusion, with a pleiotropic scan approach we identified DNAJB4-rs34517439 as a potentially novel MM risk locus.

Published
2023

37. Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression?

Author

European Commission, Instituto de Salud Carlos III, Junta de Andalucía, National Cancer Institute (US), Cabrera Serrano, Antonio José, Sánchez Maldonado, José Manuel, Ter Horst, Rob, Macauda, Angelica, García-Martín, Paloma, Benavente, Yolanda, Landi, Stefano, Clay-Gilmour, Alyssa, Niazi, Yasmeen, Espinet, Blanca, Rodríguez-Sevilla, Juan José, Pérez, Eva María, Maffei, Rossana, Blanco, Gonzalo, Giaccherini, Matteo, Cerhan, James R, Marasca, Roberto, López-Nevot, Miguel Ángel, Chen-Liang, Tzu, Thomsen, Hauke, Gámez, Irene, Campa, Daniele, Moreno, Víctor, Sanjosé, Silvia de, Marcos-Gragera, Rafael, García-Alvarez, María, Dierssen-Sotos, Trinidad, Jerez, Andrés, Butrym, Aleksandra, Norman, Aaron D., Luppi, Mario, Slager, Susan L., Hemminki, Kari, Li, Yang, Berndt, Sonja I., Casabonne, Delphine, Alcoceba, Miguel, Puiggros, Anna, Netea, Mihai G., Försti, Asta, Canzian, Federico, Sainz, Juan, European Commission, Instituto de Salud Carlos III, Junta de Andalucía, National Cancer Institute (US), Cabrera Serrano, Antonio José, Sánchez Maldonado, José Manuel, Ter Horst, Rob, Macauda, Angelica, García-Martín, Paloma, Benavente, Yolanda, Landi, Stefano, Clay-Gilmour, Alyssa, Niazi, Yasmeen, Espinet, Blanca, Rodríguez-Sevilla, Juan José, Pérez, Eva María, Maffei, Rossana, Blanco, Gonzalo, Giaccherini, Matteo, Cerhan, James R, Marasca, Roberto, López-Nevot, Miguel Ángel, Chen-Liang, Tzu, Thomsen, Hauke, Gámez, Irene, Campa, Daniele, Moreno, Víctor, Sanjosé, Silvia de, Marcos-Gragera, Rafael, García-Alvarez, María, Dierssen-Sotos, Trinidad, Jerez, Andrés, Butrym, Aleksandra, Norman, Aaron D., Luppi, Mario, Slager, Susan L., Hemminki, Kari, Li, Yang, Berndt, Sonja I., Casabonne, Delphine, Alcoceba, Miguel, Puiggros, Anna, Netea, Mihai G., Försti, Asta, Canzian, Federico, and Sainz, Juan

Abstract

Chronic lymphocytic leukemia (CLL) is the most common leukemia among adults worldwide. Although genome-wide association studies (GWAS) have uncovered the germline genetic component underlying CLL susceptibility, the potential use of GWAS-identified risk variants to predict disease progression and patient survival remains unexplored. Here, we evaluated whether 41 GWAS-identified risk variants for CLL could influence overall survival (OS) and disease progression, defined as time to first treatment (TTFT) in a cohort of 1039 CLL cases ascertained through the CRuCIAL consortium. Although this is the largest study assessing the effect of GWAS-identified susceptibility variants for CLL on OS, we only found a weak association of ten single nucleotide polymorphisms (SNPs) with OS (p < 0.05) that did not remain significant after correction for multiple testing. In line with these results, polygenic risk scores (PRSs) built with these SNPs in the CRuCIAL cohort showed a modest association with OS and a low capacity to predict patient survival, with an area under the receiver operating characteristic curve (AUROC) of 0.57. Similarly, seven SNPs were associated with TTFT (p < 0.05); however, these did not reach the multiple testing significance threshold, and the meta-analysis with previous published data did not confirm any of the associations. As expected, PRSs built with these SNPs showed reduced accuracy in prediction of disease progression (AUROC = 0.62). These results suggest that susceptibility variants for CLL do not impact overall survival and disease progression in CLL patients.

Published
2023

39. Steroid hormone-related polymorphisms associate with the development of bone erosions in rheumatoid arthritis and help to predict disease progression: Results from the REPAIR consortium

Author

Sánchez-Maldonado, Jose M., Cáliz, Rafael, Canet, Luz, Horst, Rob ter, Bakker, Olivier, den Broeder, Alfons A., Martínez-Bueno, Manuel, Canhão, Helena, Rodríguez-Ramos, Ana, Lupiañez, Carmen B., Soto-Pino, María José, García, Antonio, Pérez-Pampin, Eva, González-Utrilla, Alfonso, Escudero, Alejandro, Segura-Catena, Juana, Netea-Maier, Romana T., Ferrer, Miguel Ángel, Collantes-Estevez, Eduardo, López Nevot, Miguel Ángel, Li, Yang, Jurado, Manuel, Fonseca, João E., Netea, Mihai G., Coenen, Marieke J. H., and Sainz, Juan

Published
2019
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40. Trends in survival of multiple myeloma: A thirty-year population-based study in a single institution

Author

Ríos-Tamayo, Rafael, Sánchez, María José, Puerta, José Manuel, Sáinz, Juan, Chang, Daysi-Yoe-Ling, Rodríguez, Teresa, López, Pilar, de Pablos, José María, Navarro, Pilar, de Veas, José Luís García, Romero, Antonio, Garrido, Pilar, Moratalla, Lucía, Alarcón-Payer, Carolina, López-Fernández, Elisa, González, Pedro Antonio, Jiménez-Moleón, José Juan, Calleja-Hernández, Miguel Ángel, and Jurado, Manuel

Published
2015
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41. Correction: Polymorphisms at phase I-metabolizing enzyme and hormone receptor loci influence the response to anti-TNF therapy in rheumatoid arthritis patients

Author

Canet, Luz M., Sánchez-Maldonado, Jose M., Cáliz, Rafael, Rodríguez-Ramos, Ana, Lupiañez, Carmen B., Canhão, Helena, Martínez-Bueno, Manuel, Escudero, Alejandro, Segura-Catena, Juana, Sorensen, Signe B., Hetland, Merete L., Soto-Pino, María José, Ferrer, Miguel A., García, Antonio, Glintborg, Bente, Filipescu, Ileana, Pérez-Pampin, Eva, González-Utrilla, Alfonso, Nevot, Miguel Ángel López, Conesa-Zamora, Pablo, den Broeder, Alfons, De Vita, Salvatore, Jacobsen, Sven Erik Hobe, Collantes-Estevez, Eduardo, Quartuccio, Luca, Canzian, Federico, Fonseca, João E., Coenen, Marieke J. H., Andersen, Vibeke, and Sainz, Juan

Published
2019
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42. Evaluation of four prognostic indices in follicular lymphoma treated in first line with immunochemotherapy

Author

Rodríguez-Sevilla, Juan Jose, primary, Fernández-Rodríguez, Concepción, additional, Bento, Leyre, additional, Diez-Feijóo, Ramón, additional, Pinzon, Sergio Felipe, additional, Gibert, Joan, additional, Fernández-Ibarrondo, Lierni, additional, Lafuente, Marta, additional, Ferrer, Ana, additional, Sanchez-Gonzalez, Blanca, additional, Gimeno, Eva, additional, SAINZ, JUAN, additional, Ramos-Asensio, Rafael, additional, Garcia, Juan F., additional, Colomo, Lluis, additional, Bellosillo, Beatriz, additional, Gutierrez, Antonio, additional, and Salar-Silvestre, Antonio, additional

Published
2022
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43. Autophagy in Hematological Malignancies

Author

García Ruiz, Olga, primary, Sánchez-Maldonado, José Manuel, additional, López-Nevot, Miguel Ángel, additional, García, Paloma, additional, Macauda, Angelica, additional, Hernández-Mohedo, Francisca, additional, González-Sierra, Pedro Antonio, additional, Martínez-Bueno, Manuel, additional, Pérez, Eva, additional, Reyes-Zurita, Fernando Jesús, additional, Campa, Daniele, additional, Canzian, Federico, additional, Jurado, Manuel, additional, Rodríguez-Sevilla, Juan José, additional, and Sainz, Juan, additional

Published
2022
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44. A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk

Author

Dicanio, Marco, primary, Giaccherini, Matteo, additional, Clay‐Gilmour, Alyssa, additional, Macauda, Angelica, additional, Sainz, Juan, additional, Machiela, Mitchell J., additional, Rybicka‐Ramos, Malwina, additional, Norman, Aaron D., additional, Tyczyńska, Agata, additional, Chanock, Stephen J., additional, Barington, Torben, additional, Kumar, Shaji K., additional, Bhatti, Parveen, additional, Cozen, Wendy, additional, Brown, Elizabeth E., additional, Suska, Anna, additional, Haastrup, Eva K., additional, Orlowski, Robert Z., additional, Dudziński, Marek, additional, Garcia‐Sanz, Ramon, additional, Kruszewski, Marcin, additional, Martinez‐Lopez, Joaquin, additional, Beider, Katia, additional, Iskierka‐Jazdzewska, Elżbieta, additional, Pelosini, Matteo, additional, Berndt, Sonja I., additional, Raźny, Małgorzata, additional, Jamroziak, Krzysztof, additional, Rajkumar, S. Vincent, additional, Jurczyszyn, Artur, additional, Vangsted, Annette Juul, additional, Collado, Pilar Garrido, additional, Vogel, Ulla, additional, Hofmann, Jonathan N., additional, Petrini, Mario, additional, Butrym, Aleksandra, additional, Slager, Susan L., additional, Ziv, Elad, additional, Subocz, Edyta, additional, Giles, Graham G., additional, Andersen, Niels Frost, additional, Mazur, Grzegorz, additional, Watek, Marzena, additional, Lesueur, Fabienne, additional, Hildebrandt, Michelle A. T., additional, Zawirska, Daria, additional, Ebbesen, Lene Hyldahl, additional, Marques, Herlander, additional, Gemignani, Federica, additional, Dumontet, Charles, additional, Várkonyi, Judit, additional, Buda, Gabriele, additional, Nagler, Arnon, additional, Druzd‐Sitek, Agnieszka, additional, Wu, Xifeng, additional, Kadar, Katalin, additional, Camp, Nicola J., additional, Grzasko, Norbert, additional, Waller, Rosalie G., additional, Vachon, Celine, additional, Canzian, Federico, additional, and Campa, Daniele, additional

Published
2022
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46. P-070: A pleiotropy scan on multiple myeloma survival

Author

Macauda, Angelica, primary, Clay-Gilmour, Alyssa, additional, Morelli, Federica, additional, Hielscher, Thomas, additional, Sainz, Juan, additional, Weinhold, Niels, additional, Försti, Asta, additional, Hemminki, Kari, additional, Goldschmidt, Hartmut, additional, Vachon, Celine, additional, Campa, Daniele, additional, and Canzian, Federico, additional

Published
2022
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48. Type 2 Diabetes-Related Variants Influence the Risk of Developing Prostate Cancer: A Population-Based Case-Control Study and Meta-Analysis

Author

Sanchez-Maldonado, Jose M., Collado, Ricardo, Cabrera-Serrano, Antonio Jose, Horst, R. ter, Galvez-Montosa, Fernando, Robles-Fernandez, Inmaculada, Li, Y., Netea, M.G., Alvarez-Cubero, Maria Jesus, Sainz, Juan, Sanchez-Maldonado, Jose M., Collado, Ricardo, Cabrera-Serrano, Antonio Jose, Horst, R. ter, Galvez-Montosa, Fernando, Robles-Fernandez, Inmaculada, Li, Y., Netea, M.G., Alvarez-Cubero, Maria Jesus, and Sainz, Juan

Abstract

Contains fulltext : 250681.pdf (Publisher’s version ) (Open Access)

Published
2022

49. Validation and functional characterization of GWAS-identified variants for chronic lymphocytic leukemia: a CRuCIAL study

Author

European Commission, Instituto de Salud Carlos III, Universidad de Granada, Universidad de Sevilla, Generalitat de Catalunya, Gilead Sciences, Associazione Italiana per la Ricerca sul Cancro, Fundación Científica Asociación Española Contra el Cáncer, García-Martín, Paloma, Moñiz Díez, Ana, Sánchez Maldonado, José Manuel, Cabrera Serrano, Antonio José, Horst, Rob ter, Benavente, Yolanda, Landi, Stefano, Macauda, Angelica, Clay-Gilmour, Alyssa, Hernandez-Mohedo, Francisca, Niazi, Yasmeen, González-Sierra, Pedro, Espinet, Blanca, Rodríguez-Sevilla, Juan José, Maffei, Rossana, Blanco, Gonzalo, Giaccherini, Matteo, Puiggros, Anna, Cerhan, James, Marasca, Roberto, Cañadas-Garre, Marisa, López-Nevot, Miguel Ángel, Chen-Liang, Tzu, Thomsen, Hauke, Gámez, Irene, Moreno, Víctor, Marcos-Gragera, Rafael, García-Alvarez, María, Llorca, Javier, Jerez, Andrés, Berndt, Sonja, Butrym, Aleksandra, Norman, Aaron D., Casabonne, Delphine, Luppi, Mario, Slager, Susan L., Hemminki, Kari, Li, Yang, Alcoceba, Miguel, Campa, Daniele, Canzian, Federico, Sanjosé, Silvia de, Försti, Asta, Netea, Mihai, Jurado, Manuel, Sainz, Juan, European Commission, Instituto de Salud Carlos III, Universidad de Granada, Universidad de Sevilla, Generalitat de Catalunya, Gilead Sciences, Associazione Italiana per la Ricerca sul Cancro, Fundación Científica Asociación Española Contra el Cáncer, García-Martín, Paloma, Moñiz Díez, Ana, Sánchez Maldonado, José Manuel, Cabrera Serrano, Antonio José, Horst, Rob ter, Benavente, Yolanda, Landi, Stefano, Macauda, Angelica, Clay-Gilmour, Alyssa, Hernandez-Mohedo, Francisca, Niazi, Yasmeen, González-Sierra, Pedro, Espinet, Blanca, Rodríguez-Sevilla, Juan José, Maffei, Rossana, Blanco, Gonzalo, Giaccherini, Matteo, Puiggros, Anna, Cerhan, James, Marasca, Roberto, Cañadas-Garre, Marisa, López-Nevot, Miguel Ángel, Chen-Liang, Tzu, Thomsen, Hauke, Gámez, Irene, Moreno, Víctor, Marcos-Gragera, Rafael, García-Alvarez, María, Llorca, Javier, Jerez, Andrés, Berndt, Sonja, Butrym, Aleksandra, Norman, Aaron D., Casabonne, Delphine, Luppi, Mario, Slager, Susan L., Hemminki, Kari, Li, Yang, Alcoceba, Miguel, Campa, Daniele, Canzian, Federico, Sanjosé, Silvia de, Försti, Asta, Netea, Mihai, Jurado, Manuel, and Sainz, Juan

Abstract

During the past years, considerable efforts have been made to uncover the genetic component of chronic lymphocytic leukemia (CLL) susceptibility. To date, several genome-wide association studies (GWAS) and their meta-analysis have identified not only single-nucleotide polymorphisms (SNPs) associated with CLL risk [1] but also patient survival [2]. However, despite these noticeable results, it becomes evident that both validation and functional characterization of the genetic variations identified are still required before they can be used in a clinical setting. Hence, we decided to validate the association of 41 GWAS-identified hits for CLL in 1158 CLL cases and 1947 controls ascertained through the Consortium for Research in Chronic lymphocytIc Leukemia (CRuCIAL) and to investigate their impact on modulating host immune responses and their utility to predict disease onset. Study participants were of European ancestry and gave their written informed consent to participate in the study, which was approved by the ethical review committee of participant institutions. CLL patients had often Binet stage A and Rai stage I (67.00% and 79.83%) and, compared to controls, had a higher mean age (66.19 ± 12.66 vs. 55.60 ± 11.50) and an increased male/female ratio (1.54 vs. 0.91). SNPs selection was based on published GWAS, functionality according to HaploReg data, and linkage disequilibrium between the SNPs. Genotyping of genetic variants was performed using KASPTM and Taqman® assays. Hardy–Weinberg equilibrium was assessed in the controls (P > 0.001) and the association between CLL and SNPs was tested using a multivariate unconditional logistic regression analysis adjusted for age, sex, and country of origin. A meta-analysis of the CRuCIAL results with those from previous GWAS was conducted to validate genetic associations and the I [2] statistic was used to assess statistical heterogeneity between the studies (PHet > 0.01). The pooled OR was computed using the fixed-effect mo

Published
2022

50. Identification of miRSNPs associated with the risk of multiple myeloma

Author

Macauda, Angelica, Calvetti, Diego, Maccari, Giuseppe, Hemminki, Kari, Försti, Asta, Goldschmidt, Hartmut, Weinhold, Niels, Houlston, Richard, Andersen, Vibeke, Vogel, Ulla, Buda, Gabriele, Varkonyi, Judit, Sureda, Anna, Martinez Lopez, Joaquin, Watek, Marzena, Butrym, Aleksandra, Sarasquete, Maria Eugenia, Dudziński, Marek, Jurczyszyn, Artur, DruzdSitek, Agnieszka, Kruszewski, Marcin, Subocz, Edyta, Petrini, Mario, IskierkaJażdżewska, Elzbieta, Raźny, Malgorzata, Szombath, Gergely, Marques, Herlander, Zawirska, Daria, Chraniuk, Dominik, Halka, Janusz, Hove Jacobsen, Svend Erik, Mazur, Grzegorz, García Sanz, Ramón, Dumontet, Charles, Moreno, Victor, Stępień, Anna, Beider, Katia, Pelosini, Matteo, Manuel Reis, Rui, KrawczykKulis, Malgorzata, Rymko, Marcin, AvetLoiseau, Hervé, Lesueur, Fabienne, Grząśko, Norbert, Ostrovsky, Olga, Jamroziak, Krzysztof, Vangsted, Annette J., Jerez, Andrés, Tomczak, Waldemar, Zaucha, Jan Maciej, Kadar, Katalin, Sainz, Juan, Nagler, Arnon, Landi, Stefano, Gemignani, Federica, and Canzian, Federico

Published
2017
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