Jose Manuel Sánchez Maldonado

@genyo.es

Genética de las hemopatías malignas y complicaciones asociadas
Centro Pfizer – Universidad de Granada – Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)

Jose Manuel Sánchez Maldonado


            Download Compact PDF  
https://researchid.co/sanchez-maldonadojm
26

Scopus Publications

Scopus Publications

  • Liquid biopsy biomarkers for accurate detection of malignant pulmonary nodules: a meta-analytic approach
    Alberto Caballero-Vazquez, Marta Garcia-Cerezo, Laura R. Fernandez-Castro, Concepcion Morales-Garcia, Antonio Jesus Lainez Ramos-Bossini, Fabian Vergara-Rubio, Francisco Gabriel Ortega-Sanchez, Jose Manuel Sanchez-Maldonado
    Discover Oncology, 2026
    Pulmonary nodules are a common radiological finding that can be classified as either benign or Malignant, with significant clinical implications. The early detection of malignant nodules is critically important for improving the prognosis of lung cancer, which remains the leading cause of cancer-related mortality worldwide. Traditional imaging techniques have Limitations in accurately classifying pulmonary nodules. Liquid biopsy, a minimally invasive method that evaluates circulating components in the Blood, presents promising diagnostic potential in this context. This study aims to evaluate the diagnostic capacity of multiple liquid biopsy biomarkers for early and accurate differentiation between benign and Malignant pulmonary nodules. Accordingly, we conducted a comprehensive study involving a meta-analysis, selecting 16 eligible studies that utilised liquid biopsy to assess various circulating biomarkers in the diagnostic yield. The most significant results were linked to circulating free DNA (cfDNA). However, other components, including circulating tumour cells (CTCs), microRNAs/pfeRNAs, extracellular vesicles (EVs), serological markers, and imaging techniques, also provided valuable information. Similarly, integrating multi-omics data with machine learning models has been shown to enhance the ability to differentiate between benign and malignant pulmonary nodules, thereby supporting early diagnosis and improved management for patients with lung cancer.
  • ULK4 and CDKN2A polymorphisms influence the risk of developing monoclonal gammopathy of undetermined significance
    José Manuel Sánchez‐Maldonado, Angelica Macauda, Antonio José Cabrera‐Serrano, Hauke Thomsen, Murat Güler, Rob Ter Horst, Bethany van Guelpen, Pavel Vodicka, Stefano Landi, Subhayan Chattopadhyay, Pelin Ünal, Lucía Ruiz‐Durán, Delphine Casabonne, Hartmut Goldschmidt, Istemi Serin, María Carretero‐Fernández, Elena Cabezudo, Fernando Reyes‐Zurita, Aaron D. Norman, Ramón García‐Sanz, Gabriele Capurso, Per Hoffmann, Ulrika Pettersson‐Kymmer, Francisco Jiménez‐Romera, S. Vincent Rajkumar, Niels Weinhold, Ludmila Vodickova, Christian Langer, Angelika Stein, Abdulkadir Karismaz, Victor Moreno, Markus M. Nöthen, Karl‐Heinz Jöckel, Francesca Tavano, Joaquín Martínez‐López, Shaji K. Kumar, Juan Francisco Gutiérrez‐Bautista, Daniela Basso, Florentin Späth, Yolanda Benavente, Michelle A. T. Hildebrandt, Börge Schmidt, Tereza Sevcikova, Rui Manuel Vieira Reis, Yang Li, Miguel Ángel López‐Nevot, Mihai G. Netea, Daniele Campa, Alyssa Clay‐Gilmour, Susan L Slager, Kari Hemminki, Celine M Vachon, Asta Försti, Federico Canzian, Juan Sainz
    International Journal of Cancer, 2026
    Monoclonal gammopathy of undetermined significance (MGUS) is a necessary precursor condition to multiple myeloma (MM). Given the role of autophagy in modulating MM risk, we investigated whether genetic variation in autophagy‐related genes influences susceptibility to MGUS. We analyzed the association of 34,042 common autophagy‐related single nucleotide polymorphisms (SNPs) with MGUS across six independent cohorts, five from Europe and one from North America, comprising 2317 MGUS cases and 282,358 controls. We also assessed their impact on immune parameters, including absolute counts of 91 blood‐derived immune cell subsets and 103 circulating immunological proteins. Meta‐analysis revealed a genome‐wide significant association between the ULK4 rs6599175C allele and increased MGUS risk ( p = 3.35 × 10 −8 ). Carriers of this allele showed reduced counts of memory B cell subsets (IgM+CD38+CD27+ and IgD+IgM+CD27+; p = .0038 and p = .0056, respectively) and natural effector B cells (CD24+CD38+IgD+IgM+ cells; p = .0060). Although these associations were not statistically significant after multiple testing correction, they suggest a role of ULK4 in early B‐cell differentiation. Additionally, the CDKN2A rs2811710 variant showed a suggestive association with MGUS risk ( p = 2.17 × 10 −4 ), affecting transcription factor binding involved in B‐cell proliferation and differentiation, although it lacked association with immune markers. In conclusion, we confirm a genome‐wide significant association of the ULK4 locus and MGUS risk, supporting its role in early B‐cell differentiation, and identify CDKN2A as a candidate susceptibility locus warranting further investigation.
  • Identification of new overlapping and disease-specific genetic risk factors for rheumatoid arthritis and radiographic axial spondyloarthritis: a meta-analysis of three large European populations and functional characterization
    Antonio José Cabrera-Serrano, María Carretero-Fernández, Begoña Pérez-Rojo, Rob ter Horst, Marisa Cañadas-Garre, Helena Canhão, Luca Quartuccio, Signe B. Sorensen, Bente Glintborg, Ileana Filipescu, Eva Pérez-Pampin, Pablo Conesa-Zamora, Jerzy Swierkot, Alfons A. den Broeder, Salvatore de Vita, Eva Rabing Brix Petersen, Yang Li, Marieke J. H. Coenen, Katarzyna Bogunia-Kubik, Vibeke Andersen, João Eurico Fonseca, Merete Lund Hetland, Miguel Ángel López Nevot, Clementina López-Medina, Fernando Jesús Reyes-Zurita, Mihai G. Netea, Alejandro Escudero, Rafael Cáliz, Eduardo Collantes-Estévez, José Manuel Sánchez-Maldonado, Juan Sainz
    Frontiers in Immunology, 2026
    Introduction This study conducted a meta-analysis across three large European cohorts (UKBB, FinnGen, and REPAIR), including 12,660 rheumatoid arthritis (RA) cases, 2,446 radiographic axial spondyloarthritis (r-axSpA) cases, and over 530,000 shared controls. Methods Ten independent SNPs in CARMIL1 , GRM4 , ITPR3 , PRSS16 , ZNF322 , HTT , IKZF1 , MANEA , and MGAM2 were analyzed, and functional characterization was performed through cytokine and protein assessments as well as eQTL analyses. Results Ten independent SNPs were significantly associated with both RA and r-axSpA. Risk alleles included HTT rs363075A , IKZF1 rs12718261A , MANEA rs72920280T , and MGAM2 rs73158426G , while CARMIL1 rs72831267C , GRM4 rs2495964G , ITPR3 rs77601296A , ITPR3 rs9469540T , PRSS16 rs72843633T , and ZNF322 rs6901425G had protective effects. Functional analysis showed that GRM4 rs2495964G was linked to decreased CCL25 levels (p = 0.00030), and ITPR3 rs9469540T to reduced IL10 production after LPS stimulation (p = 1.3×10 −4 ). The ZNF322rs6901425G allele was associated with reduced TNFB and increased TGM2 levels (p = 9.60×10 −4 and p = 3.00× 10−4 ), both involved in immune signaling and tissue remodeling. Disease-specific associations were found in BTN2A1 , BTN3A2 , and H2BC11 . The BTN2A1 rs1977199A allele was protective in RA (OR = 0.93) but increased r-axSpA risk (OR = 1.23), and was associated with reduced IL22 (p = 0.00016) and elevated HO-1 in obese individuals (p = 6.73×10 −6 ). In contrast, BTN3A2 rs9393716G and H2BC11 rs66462181C increased RA risk but were protective in r-axSpA, linked to decreased HO-1 and IL6 (p = 2.43×10 −5 , 3.287times;10 −4 , 1.18×10 −4 ). These SNPs also acted as eQTLs for immune-related genes such as BTN3A2 , HMGN4 , and TRIM38 . Discussion Our findings highlight novel shared and disease-specific variants and key immunoregulatory mediators—IL10, IL22, IL6, CCL25, and HO-1—offering insights for disease stratification and therapeutic targeting.
  • Identification of 4 autophagy-related genetic variants as risk factors for chronic lymphocytic leukemia
    Antonio José Cabrera-Serrano, José Manuel Sánchez-Maldonado, Juan José Rodríguez-Sevilla, Fernando Jesús Reyes-Zurita, Rosa Collado, Anna Puiggros, Elena Cornejo-Calvo, Paloma García-Martín, Rob Ter Horst, Yolanda Benavente, Andrés Jerez, Stefano Landi, Blanca Espinet, Rossana Maffei, Miguel Ángel López-Nevot, Silvia Ramos-Campoy, Carmen González-Olmedo, Tzu-Hua Chen-Liang, Víctor Moreno, Fatin Jannus, Rafael Marcos-Gragera, María Carretero-Fernández, Belém Sampaio-Marques, Irene Gámez, María García-Álvarez, Nicola J. Camp, Trinidad Dierssen-Sotos, Joanna Kamaso, Eva María Pérez, Aaron D. Norman, Mario Luppi, Yang Li, Miguel Alcoceba, Daniele Campa, Silvia de San José, Roberto Marasca, Paula Ludovico, Alyssa Clay-Gilmour, Federico Canzian, Marian Ibañez, Mihai G. Netea, James McKay, Delphine Casabonne, Sonja I. Berndt, Susan L. Slager, Juan Sainz
    Blood Advances, 2025
    We investigated the influence of 55 583 autophagy-related single-nucleotide polymorphisms (SNPs) on chronic lymphocytic leukemia (CLL) risk across 4 independent populations comprising 5472 CLL cases and 726 465 controls. We also examined their impact on overall survival (OS), time to first treatment (TTFT), autophagy flux, and immune responses. A meta-analysis of the 4 populations identified, to our knowledge, for the first time, significant associations between CDKN2A (rs3731204) and BCL2 (rs4940571, rs12457371, and rs1026825) SNPs and CLL risk, with CDKN2A showing the strongest association (P = 1.57 × 10−12). We also validated previously reported associations for FAS, BCL2, and BAK1 SNPs with CLL risk (P = 4.73 × 10−21 to 3.39 × 10−9). The CDKN2Ars3731204 and FASrs1926194 SNPs associated with increased CDKN2A and ACTA2 messenger RNA expression levels in the whole blood and/or lymphocytes (P = 5.1 × 10−7, P = 1.58 × 10−21, and P = 7.8 × 10−41), although no significant effect on autophagy flux was observed. However, associations were found between CDKN2A, BCL2, and FAS SNPs and various T-cell subsets, cytokine production, and circulating concentrations of interferon gamma, tumor necrosis factor–related apoptosis-inducing ligand, CD40, chemokine ligand 20, and interleukin-2 receptor subunit β proteins (P ≤ .005). No significant association was detected between autophagy variants and OS or TTFT, suggesting that these variants drive disease initiation rather than progression. In conclusion, this study identified 4 novel associations for CLL and provided insights into the biological pathways that influence CLL development.
  • Autophagy and oxidative stress in solid tumors: Mechanisms and therapeutic opportunities
    María Carretero-Fernández, Antonio José Cabrera-Serrano, José Manuel Sánchez-Maldonado, Lucía Ruiz-Durán, Francisco Jiménez-Romera, Francisco José García-Verdejo, Carmen González-Olmedo, Aina Cardús, Leticia Díaz-Beltrán, Juan Francisco Gutiérrez-Bautista, Yolanda Benavente, Fernando Gálvez-Montosa, José Antonio López-López, Paloma García-Martín, Eva María Pérez, Juan José Rodríguez-Sevilla, Delphine Casabonne, Pedro Sánchez-Rovira, Fernando Jesús Reyes-Zurita, Juan Sainz
    Critical Reviews in Oncology Hematology, 2025
    Cancer remains a leading cause of mortality worldwide, with solid tumors representing most cases. Autophagy and oxidative stress are two interconnected cellular mechanisms that influence tumor initiation, therapeutic response and disease progression. Autophagy plays a context-dependent role, functioning as a tumor suppressor by eliminating damaged organelles in early stages, while later supporting tumor survival under metabolic and therapeutic stress. Similarly, oxidative stress, characterized by an imbalance in reactive oxygen species (ROS), can drive tumorigenesis by promoting genomic instability and resistance to therapy but can also induce apoptosis in cancer cells. The crosstalk between autophagy and oxidative stress plays a pivotal role in shaping the tumor microenvironment, affecting immune evasion, drug resistance, and metabolic adaptation. Targeting these processes through pharmacological modulation presents both challenges and opportunities in cancer therapy. While autophagy inhibition can enhance chemotherapy efficacy by preventing tumor cell survival mechanisms, excessive oxidative stress induction may lead to cellular damage and systemic toxicity. This review explores the complex interplay between autophagy and oxidative stress in solid tumors, emphasizing their implications for cancer progression and treatment strategies. By understanding these mechanisms, novel therapeutic approaches, including combination therapies and precision medicine strategies, may be developed to improve patient outcomes. • Cancer remains a leading global health issue, with solid tumors being the most prevalent form in both adults and children, highlighting the urgent need for deeper biological understanding. • Autophagy and oxidative stress are central, interconnected cellular processes in cancer development, progression, and treatment resistance. • Autophagy has a tumor-suppressive role in early stages (eliminating damaged components, reducing oxidative stress) whereas it has a tumor-promoting role in advanced stages (supporting cell survival under stress, therapy resistance). • Oxidative stress promotes cancer through DNA damage, activation of oncogenic pathways (e.g., NF-κB, PI3K/AKT), and immune evasion, but can also trigger cell death when ROS levels are excessive. • The interaction between autophagy and ROS is dynamic and bidirectional, regulated by key pathways and transcription factors (e.g., AMPK, mTOR, p53, NRF2), influencing tumor behavior depending on context and tumor type. • In the tumor microenvironment, cancer cells exploit oxidative stress and autophagy in neighboring cells to create a supportive, nutrient-rich niche that enhances tumor survival and growth. • Therapeutic implications: Understanding this interplay opens potential strategies to selectively target autophagy or oxidative stress pathways to improve cancer treatments and immunotherapy responses. • Targeting autophagy and oxidative stress in cancer therapy offers promising avenues, but their dual and context-dependent roles—ranging from tumor suppression to promoting survival—require personalized strategies, robust biomarkers, and combination approaches to overcome resistance, minimize toxicity, and improve treatment outcomes.
  • Crosstalk Between Autophagy and Oxidative Stress in Hematological Malignancies: Mechanisms, Implications, and Therapeutic Potential
    Antonio José Cabrera-Serrano, José Manuel Sánchez-Maldonado, Carmen González-Olmedo, María Carretero-Fernández, Leticia Díaz-Beltrán, Juan Francisco Gutiérrez-Bautista, Francisco José García-Verdejo, Fernando Gálvez-Montosa, José Antonio López-López, Paloma García-Martín, Eva María Pérez, Pedro Sánchez-Rovira, Fernando Jesús Reyes-Zurita, Juan Sainz
    Antioxidants, 2025
    Autophagy is a fundamental cellular process that maintains homeostasis by degrading damaged components and regulating stress responses. It plays a crucial role in cancer biology, including tumor progression, metastasis, and therapeutic resistance. Oxidative stress, similarly, is key to maintaining cellular balance by regulating oxidants and antioxidants, with its disruption leading to molecular damage. The interplay between autophagy and oxidative stress is particularly significant, as reactive oxygen species (ROS) act as both inducers and by-products of autophagy. While autophagy can function as a tumor suppressor in early cancer stages, it often shifts to a pro-tumorigenic role in advanced disease, aiding cancer cell survival under adverse conditions such as hypoxia and nutrient deprivation. This dual role is mediated by several signaling pathways, including PI3K/AKT/mTOR, AMPK, and HIF-1α, which coordinate the balance between autophagic activity and ROS production. In this review, we explore the mechanisms by which autophagy and oxidative stress interact across different hematological malignancies. We discuss how oxidative stress triggers autophagy, creating a feedback loop that promotes tumor survival, and how autophagic dysregulation leads to increased ROS accumulation, exacerbating tumorigenesis. We also examine the therapeutic implications of targeting the autophagy–oxidative stress axis in cancer. Current strategies involve modulating autophagy through specific inhibitors, enhancing ROS levels with pro-oxidant compounds, and combining these approaches with conventional therapies to overcome drug resistance. Understanding the complex relationship between autophagy and oxidative stress provides critical insights into novel therapeutic strategies aimed at improving cancer treatment outcomes.
  • Polymorphisms within autophagy-related genes as susceptibility biomarkers for pancreatic cancer: A meta-analysis of three large European cohorts and functional characterization
    Fernando Gálvez‐Montosa, Giulia Peduzzi, José Manuel Sanchez‐Maldonado, Rob ter Horst, Antonio J. Cabrera‐Serrano, Manuel Gentiluomo, Angelica Macauda, Natalia Luque, Pelin Ünal, Francisco Javier García‐Verdejo, Yang Li, José Antonio López López, Angelika Stein, H. Bas Bueno‐de‐Mesquita, Paolo Giorgio Arcidiacono, Dalila Luciola Zanette, Christoph Kahlert, Francesco Perri, Pavel Soucek, Renata Talar‐Wojnarowska, George E. Theodoropoulos, Jakob R. Izbicki, Hussein Tamás, Hanneke Van Laarhoven, Gennaro Nappo, Maria Chiara Petrone, Martin Lovecek, Roel C. H. Vermeulen, Kestutis Adamonis, Fernando Jesus Reyes‐Zurita, Bernd Holleczek, Jolanta Sumskiene, Beatrice Mohelníková‐Duchoňová, Rita T. Lawlor, Raffaele Pezzilli, Mateus Nobrega Aoki, Claudio Pasquali, Vitalija Petrenkiene, Daniela Basso, Stefania Bunduc, Annalisa Comandatore, Hermann Brenner, Stefano Ermini, Giuseppe Vanella, Mara R. Goetz, Livia Archibugi, Maurizio Lucchesi, Faik Guntac Uzunoglu, Olivier Busch, Anna Caterina Milanetto, Marta Puzzono, Juozas Kupcinskas, Luca Morelli, Cosimo Sperti, Silvia Carrara, Gabriele Capurso, Casper H. J. van Eijck, Martin Oliverius, Susanne Roth, Francesca Tavano, Rudolf Kaaks, Andrea Szentesi, Ludmila Vodickova, Claudio Luchini, Ben Schöttker, Stefano Landi, Orsolya Dohan, Matteo Tacelli, William Greenhalf, Maria Gazouli, John P. Neoptolemos, Giulia Martina Cavestro, Ugo Boggi, Anna Latiano, Péter Hegyi, Laura Ginocchi, Mihai G. Netea, Pedro Sánchez‐Rovira, Federico Canzian, Daniele Campa, Juan Sainz
    International Journal of Cancer, 2025
    Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers with patients having unresectable or metastatic disease at diagnosis, with poor prognosis and very short survival. Given that genetic variation within autophagy‐related genes influences autophagic flux and susceptibility to solid cancers, we decided to investigate whether 55,583 single nucleotide polymorphisms (SNPs) within 234 autophagy‐related genes could influence the risk of developing PDAC in three large independent cohorts of European ancestry including 12,754 PDAC cases and 324,926 controls. The meta‐analysis of these populations identified, for the first time, the association of the BIDrs9604789 variant with an increased risk of developing the disease (ORMeta = 1.31, p = 9.67 × 10−6). We also confirmed the association of TP63rs1515496 and TP63rs35389543 variants with PDAC risk (OR = 0.89, p = 6.27 × 10−8 and OR = 1.16, p = 2.74 × 10−5). Although it is known that BID induces autophagy and TP63 promotes cell growth, cell motility and invasion, we also found that carriers of the TP63rs1515496G allele had increased numbers of FOXP3+ Helios+ T regulatory cells and CD45RA+ T regulatory cells (p = 7.67 × 10−4 and p = 1.56 × 10−3), but also decreased levels of CD4+ T regulatory cells (p = 7.86 × 10−4). These results were in agreement with research suggesting that the TP63rs1515496 variant alters binding sites for FOXA1 and CTCF, which are transcription factors involved in modulating specific subsets of regulatory T cells. In conclusion, this study identifies BID as new susceptibility locus for PDAC and confirms previous studies suggesting that the TP63 gene is involved in the development of PDAC. This study also suggests new pathogenic mechanisms of the TP63 locus in PDAC.
  • Identification of novel genetic loci for risk of multiple myeloma by functional annotation
    Angelica Macauda, Klara Briem, Alyssa Clay-Gilmour, Wendy Cozen, Asta Försti, Matteo Giaccherini, Chiara Corradi, Juan Sainz, Yasmeen Niazi, Rob ter Horst, Yang Li, Mihai G. Netea, Ulla Vogel, Kari Hemminki, Susan L. Slager, Judit Varkonyi, Vibeke Andersen, Elzbieta Iskierka-Jazdzewska, Joaquin Mártinez-Lopez, Jan Zaucha, Nicola J. Camp, S. Vincent Rajkumar, Agnieszka Druzd-Sitek, Parveen Bhatti, Stephen J. Chanock, Shaji K. Kumar, Edyta Subocz, Grzegorz Mazur, Stefano Landi, Mitchell J. Machiela, Andrés Jerez, Aaron D. Norman, Michelle A. T. Hildebrandt, Katalin Kadar, Sonja I. Berndt, Elad Ziv, Gabriele Buda, Arnon Nagler, Charles Dumontet, Malgorzata Raźny, Marzena Watek, Aleksandra Butrym, Norbert Grzasko, Marek Dudzinski, Malwina Rybicka-Ramos, Eva-Laure Matera, Ramón García-Sanz, Hartmut Goldschmidt, Krzysztof Jamroziak, Artur Jurczyszyn, Esther Clavero, Graham G. Giles, Matteo Pelosini, Daria Zawirska, Marcin Kruszewski, Herlander Marques, Eva Haastrup, José Manuel Sánchez-Maldonado, Uta Bertsch, Marcin Rymko, Marc-Steffen Raab, Elizabeth E. Brown, Jonathan N. Hofmann, Celine Vachon, Daniele Campa, Federico Canzian
    Leukemia, 2023
    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 ( https://gco.iarc.fr/today/home ). Established risk factors for MM include age, male sex, African ancestry, obesity, chronic inflammation, exposure to pesticides, organic solvents, and radiation [ 2 ]. Familial aggregation of MM and its precursor monoclonal gammopathy of undetermined significance (MGUS) suggests that genetic factors play a role in risk of MM as well [ 3 ]. Genetic variability has been identified as a risk factor for MM, including 25 common genetic loci identified in genome-wide association studies (GWAS). However, estimates of heritability show that many more loci remain to be found [ 4 ]. A key question is therefore how to find new causative variants. The stringent significance threshold usually used in GWAS ( p < 5 × 10 −8 ) accounts for the many statistical tests being performed but may result in false negatives. Reducing the number of tests will relax the required significance threshold, thereby increasing statistical power to detect associations with MM risk for each SNP. One strategy for reducing the number of tests is to examine SNPs with higher prior probability of association according to meaningful biological criteria. We looked for novel MM risk loci using a two-phase large-scale association study, prioritizing polymorphisms with predicted functional impact, a strategy that has been used for other cancers and led to the discovery of new loci [ 5 , 6 , 7 ] It is well known that functional variants are indeed more likely to be associated with disease development [ 8 ]. We used data from the International Lymphoma Epidemiology Consortium (InterLymph) for discovery and from the German-speaking Myeloma Multicenter Group (GMMG), the International Multiple Myeloma rESEarch (IMMEnSE) consortium, as well as summary statistics from the FinnGen study for replication, for a total of 5982 MM cases and 266,173 controls. Detailed characteristics of the study populations are shown in the supplementary methods and supplementary table 1 . Candidate SNPs to be replicated were selected based on their association with MM risk and their functional role. First, we obtained summary results including odds ratios (OR), 95% confidence intervals (95%-CI), and p -values of the top SNPs of the InterLymph GWAS. Subsequently, all SNPs in the MM data set from InterLymph with p < 5 × 10 −4 ( N = 4396) were looked up in the first replication dataset, the GMMG GWAS. We did not consider SNPs from 15 loci that were reported to be associated at genome-wide significance level in previous GWASs. All SNPs with significant p -values ( p < 0.05) in the GMMG GWAS and ORs going in the same direction in both datasets were selected. The next step was annotating the selected SNPs ( N = 136) for their predicted function, using several suitable bioinformatic tools and databases. Specifically, we looked at expression and splicing quantitative trait loci (eQTLs and sQTLs), SNPs located in transcription factor binding sites (TFBS), long non-coding RNA (lncSNPs), SNPs that are located within enhancers, and polymorphisms located in gene coding regions (missense, stop-gain, stop-loss, synonymous SNPs). Supplementary Table 2 shows the details of the 136 SNPs and their predicted functional characterization. The resulting list from all annotations was pruned for linkage disequilibrium (LD) using the LDlink portal ( https://ldlink.nci.nih.gov/ ). Only SNPs with r 2 < 0.6 among them were kept, resulting in a total of 12 independent loci on 9 chromosomes. Replication in IMMEnSE and FinnGen was attempted for SNPs showing association with risk in the meta-analysis between InterLymph and GMMG GWAS and at least one in silico functional annotation. After exclusion of SNPs that had already been analysed in IMMEnSE in the context of previous projects and already shown not to be significantly associated with MM risk (on chromosomes 6, 8, 12 and 21), 4 SNPs showed to have low p -value of association with MM risk and had at least one functional prediction annotation (rs12038685, rs2664188, rs12652920, rs28199), which were therefore chosen for replication in IMMEnSE (Supplementary Table 3 ). An in-depth description of the SNP functional annotation and selection, as well as the technical details of the genotyping and quality control, can be found in the Supplementary Methods . Analysis of association between each SNP and MM risk was carried out with logistic regression models, by estimating ORs, their 95%-CI, and associated p -value. The analyses were adjusted for age (at diagnosis for MM cases and recruitment for controls), sex, and the 10 first principal components for GWAS data, or country of origin in IMMEnSE, which lacks GWAS data. All meta-analyses were conducted with R, using a fixed-effect model between summary statistics of the different studies. The I ² statistic was computed to quantify heterogeneity across studies. rs28199, on chromosome 5, was associated with MM risk in IMMEnSE (OR = 1.19, 95% C.I. = 0.72–0.97, p = 0.018) and FinnGen (1.17, 95% C.I. = 1.05–1.31, p = 0.014). The G allele of this SNP resulted to be significantly associated with increased MM risk at a genome-wide level in the meta-analysis of the four datasets (OR = 1.18, 95% C.I. = 1.11–1.23, p = 3.18 × 10 −10 ) with no heterogeneity among the studies ( I 2 = 0) (Table 1 , Fig. 1 ). Table 1 Association results of the SNPs selected for replication in IMMENSE. Full size table Fig. 1: Meta-analysis result of rs28199. Forest plot of the meta-analysis using a fixed effects model across all four datasets. Heterogeneity was assessed using the I 2 statistic. OR = odds ratio, 95% CI = 95% confidence interval. Full size image This polymorphism was selected for being predicted to affect the binding site of three transcription factors: IRF1, STAT2_STAT1 and FOXP1. The strongest effect of the SNP was calculated for IRF1 (interferon regulatory factor 1), a protein member of the IRF family which was first recognized for its role as activator of genes involved in both innate and acquired immune responses. IRF-1 activates a set of target genes associated with regulation of cell cycle, apoptosis and the immune response [ 9 , 10 ]. According to the SNP2TFBS database, rs28199 is predicted to modify a binding site of IRF1 leading to a stronger bond, which could in turn result in oncogenesis considering the set of genes that IRF1 regulates. The minor allele of rs28199 is located within a regulatory region which according to the variant effect predictor tool ( https://www.ensembl.org/info/docs/tools/vep/index.html ) and HaploReg ( https://pubs.broadinstitute.org/mammals/haploreg/haploreg.php ) binds the CTCF protein, a highly conserved zinc finger with various cellular regulatory role. CTCF binding perturbations cause different types of 3D genome reorganization and may cause the activation of the neighboring oncogenes [ 11 ]. Among the genes that CTCF regulates there is STK10 , which encodes for a serine/threonine-protein kinase, highly expressed in hematopoietic tissue [ 12 ]. In various lymphoid cells rs28199-G is associated with an increased expression of STK10 . Overexpression of STK10 has been reported in several cancer types, including acute myeloid leukemia (AML), another blood malignancy [ 13 , 14 ]. We used data from the 500 Functional Genomics cohort from the Human Functional Genomics Project (HFGP; http://www.humanfunctionalgenomics.org/site/ ) to explore the possible role in modulating immune response of the four SNPs selected for the final replication steps. Namely, we tested if any of the SNPs of interest were cytokine expression quantitative trait loci (cQTL) using data from in vitro stimulation experiments, as well as absolute numbers of 91 blood-derived cell populations and 103 serum or plasmatic inflammatory proteins. The cQTL analyses showed that rs28199-G is also associated with an increased blood level of Interleukin-6 (IL-6) (beta=0.075, p = 0.002). IL-6 is a cytokine with a well established role as a growth and survival factor in MM [ 15 ]. Specifically, in line with our results, an increased level of IL-6 contributes to the pleiotropic effects of IL-6 regarding proliferation, survival, drug resistance, and migration of MM cells, thereby facilitating disease progression [ 16 ]. The counts of cell populations and the levels of serum or plasmatic inflammatory proteins were not significantly associated with the SNPs of interest. In conclusion, we identified a new genetic association for MM, supported by functional biological explanations, thus highlighting the importance of secondary analysis using functional approaches for GWAS.
  • Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression?
    Antonio José Cabrera-Serrano, José Manuel Sánchez-Maldonado, Rob ter Horst, Angelica Macauda, Paloma García-Martín, Yolanda Benavente, Stefano Landi, Alyssa Clay-Gilmour, Yasmeen Niazi, Blanca Espinet, Juan José Rodríguez-Sevilla, Eva María Pérez, Rossana Maffei, Gonzalo Blanco, Matteo Giaccherini, James R. Cerhan, Roberto Marasca, Miguel Ángel López-Nevot, Tzu Chen-Liang, Hauke Thomsen, Irene Gámez, Daniele Campa, Víctor Moreno, Silvia de Sanjosé, Rafael Marcos-Gragera, María García-Álvarez, Trinidad Dierssen-Sotos, Andrés Jerez, Aleksandra Butrym, Aaron D. Norman, Mario Luppi, Susan L. Slager, Kari Hemminki, Yang Li, Sonja I. Berndt, Delphine Casabonne, Miguel Alcoceba, Anna Puiggros, Mihai G. Netea, Asta Försti, Federico Canzian, Juan Sainz
    International Journal of Molecular Sciences, 2023
    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 &lt; 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 &lt; 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.
  • Polymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma: A Meta-Analysis of Three Large Cohorts and Functional Characterization
    Esther Clavero, José Manuel Sanchez-Maldonado, Angelica Macauda, Rob Ter Horst, Belém Sampaio-Marques, Artur Jurczyszyn, Alyssa Clay-Gilmour, Angelika Stein, Michelle A. T. Hildebrandt, Niels Weinhold, Gabriele Buda, Ramón García-Sanz, Waldemar Tomczak, Ulla Vogel, Andrés Jerez, Daria Zawirska, Marzena Wątek, Jonathan N. Hofmann, Stefano Landi, John J. Spinelli, Aleksandra Butrym, Abhishek Kumar, Joaquín Martínez-López, Sara Galimberti, María Eugenia Sarasquete, Edyta Subocz, Elzbieta Iskierka-Jażdżewska, Graham G. Giles, Malwina Rybicka-Ramos, Marcin Kruszewski, Niels Abildgaard, Francisco García Verdejo, Pedro Sánchez Rovira, Miguel Inacio da Silva Filho, Katalin Kadar, Małgorzata Razny, Wendy Cozen, Matteo Pelosini, Manuel Jurado, Parveen Bhatti, Marek Dudzinski, Agnieszka Druzd-Sitek, Enrico Orciuolo, Yang Li, Aaron D. Norman, Jan Maciej Zaucha, Rui Manuel Reis, Miroslaw Markiewicz, Juan José Rodríguez Sevilla, Vibeke Andersen, Krzysztof Jamroziak, Kari Hemminki, Sonja I. Berndt, Vicent Rajkumar, Grzegorz Mazur, Shaji K. Kumar, Paula Ludovico, Arnon Nagler, Stephen J. Chanock, Charles Dumontet, Mitchell J. Machiela, Judit Varkonyi, Nicola J. Camp, Elad Ziv, Annette Juul Vangsted, Elizabeth E. Brown, Daniele Campa, Celine M. Vachon, Mihai G. Netea, Federico Canzian, Asta Försti, Juan Sainz
    International Journal of Molecular Sciences, 2023
    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 &lt; 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 influence MM risk through the modulation of specific subsets of immune cells, as well as vitamin D3−, MCP-2−, and IL20-dependent pathways.
  • GWAS-Identified Variants for Obesity Do Not Influence the Risk of Developing Multiple Myeloma: A Population-Based Study and Meta-Analysis
    José Manuel Sánchez-Maldonado, Antonio José Cabrera-Serrano, Subhayan Chattopadhyay, Daniele Campa, María del Pilar Garrido, Angelica Macauda, Rob Ter Horst, Andrés Jerez, Mihai G. Netea, Yang Li, Kari Hemminki, Federico Canzian, Asta Försti, Juan Sainz
    International Journal of Molecular Sciences, 2023
  • Autophagy in Hematological Malignancies
    Olga García Ruiz, José Manuel Sánchez-Maldonado, Miguel Ángel López-Nevot, Paloma García, Angelica Macauda, Francisca Hernández-Mohedo, Pedro Antonio González-Sierra, Manuel Martínez-Bueno, Eva Pérez, Fernando Jesús Reyes-Zurita, Daniele Campa, Federico Canzian, Manuel Jurado, Juan José Rodríguez-Sevilla, Juan Sainz
    Cancers, 2022
  • Type 2 Diabetes-Related Variants Influence the Risk of Developing Prostate Cancer: A Population-Based Case-Control Study and Meta-Analysis
    José Manuel Sánchez-Maldonado, Ricardo Collado, Antonio José Cabrera-Serrano, Rob Ter Horst, Fernando Gálvez-Montosa, Inmaculada Robles-Fernández, Verónica Arenas-Rodríguez, Blanca Cano-Gutiérrez, Olivier Bakker, María Inmaculada Bravo-Fernández, Francisco José García-Verdejo, José Antonio López López, Jesús Olivares-Ruiz, Miguel Ángel López-Nevot, Laura Fernández-Puerta, José Manuel Cózar-Olmo, Yang Li, Mihai G. Netea, Manuel Jurado, Jose Antonio Lorente, Pedro Sánchez-Rovira, María Jesús Álvarez-Cubero, Juan Sainz
    Cancers, 2022
  • Validation and functional characterization of GWAS-identified variants for chronic lymphocytic leukemia: a CRuCIAL study
    Paloma García-Martín, Ana Moñiz Díez, José Manuel Sánchez Maldonado, Antonio José Cabrera Serrano, Rob ter Horst, Yolanda Benavente, Stefano Landi, Angelica Macauda, Alyssa Clay-Gilmour, Francisca Hernández-Mohedo, Yasmeen Niazi, Pedro González-Sierra, Blanca Espinet, Juan José Rodríguez-Sevilla, Rossana Maffei, Gonzalo Blanco, Matteo Giaccherini, Anna Puiggros, James Cerhan, Roberto Marasca, Marisa Cañadas-Garre, Miguel Ángel López-Nevot, Tzu Chen-Liang, Hauke Thomsen, Irene Gámez, Víctor Moreno, Rafael Marcos-Gragera, María García-Álvarez, Javier Llorca, Andrés Jerez, Sonja Berndt, Aleksandra Butrym, Aaron D. Norman, Delphine Casabonne, Mario Luppi, Susan L. Slager, Kari Hemminki, Yang Li, Miguel Alcoceba, Daniele Campa, Federico Canzian, Silvia de Sanjosé, Asta Försti, Mihai G. Netea, Manuel Jurado, Juan Sainz
    Blood Cancer Journal, 2022
  • Validation of GWAS-Identified Variants for Anti-TNF Drug Response in Rheumatoid Arthritis: A Meta-Analysis of Two Large Cohorts
    Jose Manuel Sánchez-Maldonado, Rafael Cáliz, Miguel Ángel López-Nevot, Antonio José Cabrera-Serrano, Ana Moñiz-Díez, Helena Canhão, Rob Ter Horst, Luca Quartuccio, Signe B. Sorensen, Bente Glintborg, Merete L. Hetland, Ileana Filipescu, Eva Pérez-Pampin, Pablo Conesa-Zamora, Jerzy Swierkot, Alfons A. den Broeder, Salvatore De Vita, Eva Rabing Brix Petersen, Yang Li, Miguel A. Ferrer, Alejandro Escudero, Mihai G. Netea, Marieke J. H. Coenen, Vibeke Andersen, João E. Fonseca, Manuel Jurado, Katarzyna Bogunia-Kubik, Eduardo Collantes, Juan Sainz
    Frontiers in Immunology, 2021
  • Do myeloproliferative neoplasms and multiple myeloma share the same genetic susceptibility loci?
    Angelica Macauda, Matteo Giaccherini, Juan Sainz, Federica Gemignani, Nicola Sgherza, José Manuel Sánchez‐Maldonado, Joanna Gora‐Tybor, Joaquin Martinez‐Lopez, Gonzalo Carreño‐Tarragona, Andrés Jerez, Raffaele Spadano, Aleksandra Gołos, Manuel Jurado, Francisca Hernández‐Mohedo, Grzegorz Mazur, Francesca Tavano, Aleksandra Butrym, Judit Várkonyi, Federico Canzian, Daniele Campa
    International Journal of Cancer, 2021
  • Functional genetic variants in atg10 are associated with acute myeloid leukemia
    Isabel Castro, Belém Sampaio-Marques, Anabela C. Areias, Hugo Sousa, Ângela Fernandes, José Manuel Sanchez-Maldonado, Cristina Cunha, Agostinho Carvalho, Juan Sainz, Paula Ludovico
    Cancers, 2021
  • Polymorphisms within autophagy‐related genes influence the risk of developing colorectal cancer: A meta‐analysis of four large cohorts
    Juan Sainz, Francisco José García-Verdejo, Manuel Martínez-Bueno, Abhishek Kumar, José Manuel Sánchez-Maldonado, Anna Díez-Villanueva, Ludmila Vodičková, Veronika Vymetálková, Vicente Martin Sánchez, Miguel Inacio Da Silva Filho, Belém Sampaio-Marques, Stefanie Brezina, Katja Butterbach, Rob ter Horst, Michael Hoffmeister, Paula Ludovico, Manuel Jurado, Yang Li, Pedro Sánchez-Rovira, Mihai G. Netea, Andrea Gsur, Pavel Vodička, Víctor Moreno, Kari Hemminki, Hermann Brenner, Jenny Chang-Claude, Asta Försti
    Cancers, 2021
  • Polymorphisms within the TNFSF4 and mapkapk2 loci influence the risk of developing invasive aspergillosis: A two-stage case control study in the context of the aspbiomics consortium
    Jose Manuel Sánchez-Maldonado, Ana Moñiz-Díez, Rob ter Horst, Daniele Campa, Antonio José Cabrera-Serrano, Manuel Martínez-Bueno, María del Pilar Garrido-Collado, Francisca Hernández-Mohedo, Laura Fernández-Puerta, Miguel Ángel López-Nevot, Cristina Cunha, Pedro Antonio González-Sierra, Jan Springer, Michaela Lackner, Laura Alcazar-Fuoli, Luana Fianchi, José María Aguado, Livio Pagano, Elisa López-Fernández, Esther Clavero, Leonardo Potenza, Mario Luppi, Lucia Moratalla, Carlos Solano, Antonio Sampedro, Manuel Cuenca-Estrella, Cornelia Lass-Flörl, Federico Canzian, Juergen Loeffler, Yang Li, Hermann Einsele, Mihai G. Netea, Lourdes Vázquez, Agostinho Carvalho, Manuel Jurado, Juan Sainz, and
    Journal of Fungi, 2021
  • NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium
    Jose Manuel Sánchez-Maldonado, Manuel Martínez-Bueno, Helena Canhão, Rob ter Horst, Sonia Muñoz-Peña, Ana Moñiz-Díez, Ana Rodríguez-Ramos, Alejandro Escudero, Signe B. Sorensen, Merete L. Hetland, Miguel A. Ferrer, Bente Glintborg, Ileana Filipescu, Eva Pérez-Pampin, Pablo Conesa-Zamora, Antonio García, Alfons den Broeder, Salvatore De Vita, Svend Erik Hove Jacobsen, Eduardo Collantes, Luca Quartuccio, Mihai G. Netea, Yang Li, João E. Fonseca, Manuel Jurado, Miguel Ángel López-Nevot, Marieke J. H. Coenen, Vibeke Andersen, Rafael Cáliz, Juan Sainz
    Scientific Reports, 2020
  • Host immune genetic variations influence the risk of developing acute myeloid leukaemia: results from the NuCLEAR consortium
    J. M. Sánchez-Maldonado, D. Campa, J. Springer, J. Badiola, Y. Niazi, A. Moñiz-Díez, F. Hernández-Mohedo, P. González-Sierra, R. Ter Horst, A. Macauda, S. Brezina, C. Cunha, M. Lackner, M. A. López-Nevot, L. Fianchi, L. Pagano, E. López-Fernández, L. Potenza, M. Luppi, L. Moratalla, J. J. Rodríguez-Sevilla, J. E. Fonseca, M. Tormo, C. Solano, E. Clavero, A. Romero, Y. Li, C. Lass-Flörl, H. Einsele, L. Vazquez, J. Loeffler, K. Hemminki, A. Carvalho, M. G. Netea, A. Gsur, C. Dumontet, F. Canzian, A. Försti, M. Jurado, J. Sainz
    Blood Cancer Journal, 2020
  • Polymorphisms within the ARNT2 and CX3CR1 genes are associated with the risk of developing invasive aspergillosis
    C. B. Lupiañez, M. Martínez-Bueno, J. M. Sánchez-Maldonado, J. Badiola, C. Cunha, J. Springer, M. Lackner, J. Segura-Catena, L. M. Canet, L. Alcazar-Fuoli, M. A. López-Nevot, L. Fianchi, J. M. Aguado, L. Pagano, E. López-Fernández, M. Alarcón-Riquelme, L. Potenza, S. M. Gonçalves, M. Luppi, L. Moratalla, C. Solano, A. Sampedro, P. González-Sierra, M. Cuenca-Estrella, K. Lagrou, J. A. Maertens, C. Lass-Flörl, H. Einsele, L. Vazquez, J. Loeffler, R. Ríos-Tamayo, A. Carvalho, M. Jurado, J. Sainz, and
    Infection and Immunity, 2020
  • 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
    Jose M. Sánchez-Maldonado, Rafael Cáliz, Luz Canet, Rob ter Horst, Olivier Bakker, Alfons A. den Broeder, Manuel Martínez-Bueno, Helena Canhão, Ana Rodríguez-Ramos, Carmen B. Lupiañez, María José Soto-Pino, Antonio García, Eva Pérez-Pampin, Alfonso González-Utrilla, Alejandro Escudero, Juana Segura-Catena, Romana T. Netea-Maier, Miguel Ángel Ferrer, Eduardo Collantes-Estevez, Miguel Ángel López Nevot, Yang Li, Manuel Jurado, João E. Fonseca, Mihai G. Netea, Marieke J. H. Coenen, Juan Sainz
    Scientific Reports, 2019
  • Correction: Polymorphisms at phase I-metabolizing enzyme and hormone receptor loci influence the response to anti-TNF therapy in rheumatoid arthritis patients (The Pharmacogenomics Journal, (2019), 19, 1, (83-96), 10.1038/s41397-018-0057-x)
    Luz M. Canet, Jose M. Sánchez-Maldonado, Rafael Cáliz, Ana Rodríguez-Ramos, Carmen B. Lupiañez, Helena Canhão, Manuel Martínez-Bueno, Alejandro Escudero, Juana Segura-Catena, Signe B. Sorensen, Merete L. Hetland, María José Soto-Pino, Miguel A. Ferrer, Antonio García, Bente Glintborg, Ileana Filipescu, Eva Pérez-Pampin, Alfonso González-Utrilla, Miguel Ángel López Nevot, Pablo Conesa-Zamora, Alfons den Broeder, Salvatore De Vita, Sven Erik Hobe Jacobsen, Eduardo Collantes-Estevez, Luca Quartuccio, Federico Canzian, João E. Fonseca, Marieke J. H. Coenen, Vibeke Andersen, Juan Sainz
    Pharmacogenomics Journal, 2019
  • Polymorphisms at phase I-metabolizing enzyme and hormone receptor loci influence the response to anti-TNF therapy in rheumatoid arthritis patients
    Luz M. Canet, Jose M. Sánchez-Maldonado, Rafael Cáliz, Ana Rodríguez-Ramos, Carmen B. Lupiañez, Helena Canhão, Manuel Martínez-Bueno, Alejandro Escudero, Juana Segura-Catena, Signe B Sorensen, Merete L Hetland, María José Soto-Pino, Miguel A. Ferrer, Antonio García, Bente Glintborg, Ileana Filipescu, Eva Pérez-Pampin, Alfonso González-Utrilla, Miguel Ángel López Nevot, Pablo Conesa-Zamora, Alfons den Broeder, Salvatore De Vita, Sven Erik Hobe Jacobsen, Eduardo Collantes-Estevez, Luca Quartuccio, Federico Canzian, João E. Fonseca, Marieke J. H. Coenen, Vibeke Andersen, Juan Sainz
    Pharmacogenomics Journal, 2019
  • Common genetic polymorphisms within NFκB-related genes and the risk of developing invasive aspergillosis
    Carmen B. Lupiañez, María T. Villaescusa, Agostinho Carvalho, Jan Springer, Michaela Lackner, José M. Sánchez-Maldonado, Luz M. Canet, Cristina Cunha, Juana Segura-Catena, Laura Alcazar-Fuoli, Carlos Solano, Luana Fianchi, Livio Pagano, Leonardo Potenza, José M. Aguado, Mario Luppi, Manuel Cuenca-Estrella, Cornelia Lass-Flörl, Hermann Einsele, Lourdes Vázquez, Rafael Ríos-Tamayo, Jurgen Loeffler, Manuel Jurado, Juan Sainz
    Frontiers in Microbiology, 2016