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Roberto Díaz Peña

Docente e Investigador

UNIVERSIDAD AUTONOMA DE CHILE

Talca, Chile

Estudio de la variabilidad genética en humanos, y cómo esta puede influir en la susceptibilidad a padecer determinados fenotipos complejos. Autoinmunidad, Reumatología, Histocompatibilidad y trasplante, Oncología, Bioinformática, Estadística.

Bioquímica, UNIVERSIDAD DE OVIEDO. España, 2003
Doctorado, UNIVERSIDAD DE OVIEDO. España, 2010
Estadística, UNED, Universidad Nacional a Distancia. España, 2017
Bioinformática, Universidad Pablo de Olavide. España, 2019

Docente e Investigador Full Time

UNIVERSIDAD AUTONOMA DE CHILE

Ciencias de la Salud

Talca, Chile

2013 - A la fecha

Becario de Investigación Full Time

Hospital Universitario Central de Asturias

Oviedo, España

2005 - 2006
Investigador Contratado Full Time

Hospital Universitario Central de Asturias

Oviedo, España

2007 - 2010
Responsable de I+D Full Time

Healthsens SL

Oviedo, España

2010 - 2012
Docente e Investigador Full Time

Universidad Autónoma de Chile

Talca, Chile

2013 - A la fecha
Investigador Visitante Full Time

Sistemas Genómicos SL

Valencia, España

2017 - 2017
Investigador Visitante Full Time

Unidad de Biopsia Líquida, Oncología Médica

Santiago de Compostela, España

2019 - 2020

II Premio iberoamericano José Román

Asociación cordobesa de enfermos afectados de espondilitis

España, 2011

Premio otorgado por la Asociación cordobesa de enfermos afectados de espondilitis (ACEADE), por la investigación desarrollada en dicha enfermedad.
Premio Extraordinario de Doctorado

Universidad de Oviedo

Chile, 2011

Premio a una de las mejores Tesis Doctorales presentadas ese año en la Universidad de Oviedo. España.


Advancing equity in genomic medicine for rheumatology Diaz-Pena, Roberto; Adelowo, Olufemi Article ISI NATURE REVIEWS RHEUMATOLOGY (2024)
Cell-free DNA methylation profile potential in the diagnosis of lung squamous cell carcinoma Du, Chengli; Cai, Jin; Tang, Jie; Chen, Yunhao; Diaz-Pena, Roberto; Tomita, Yusuke; Jassem, Jacek; Zhao, Jiangang; Zheng, Difang; Tu, Zhengliang Article ISI JOURNAL OF THORACIC DISEASE (2024)
Identification fi cation of a Proteomic Signature for Predicting Immunotherapy Response in Patients With Metastatic Non-Small Cell Lung Cancer Mondelo-Macia, Patricia; Garcia-Gonzalez, Jorge; Leon-Mateos, Luis; Abalo, Alicia; Bravo, Susana; del Pilar Chantada Vazquez, Maria; Muinelo-Romay, Laura; Lopez-Lopez, Rafael; Diaz-Pena, Roberto; Davila-Ibanez, Ana B. Article ISI MOLECULAR & CELLULAR PROTEOMICS (2024)
IRF5 as a potential immunological biomarker in lung adenocarcinoma Li, Simei; Zhou, Fangling; Lan, Huahong; Cao, Xiaofei; Mogenet, Alice; Diaz-Pena, Roberto; Zhao, Meiling Article ISI TRANSLATIONAL CANCER RESEARCH (2024)
The most frequent HLA alleles around the world: A fundamental synopsis Sanchez-Mazas, Alicia; Nunes, Jose Manuel; PGAE HLA Consortium 18th Int HLA & Immunogenetics Workshop Article ISI BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY (2024)
Utility of polygenic risk scores to aid in the diagnosis of rheumatic diseases Santiago-Lamelas, Lucia; Dos Santos-Sobrin, Raquel; Carracedo, Angel; Castro-Santos, Patricia; Diaz-Pena, Roberto Article ISI BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY (2024)
<i>HLA-A11:01</i> and <i>HLA-C04:01</i> are associated with severe COVID-19 Castro-Santos, Patricia; Rojas-Martinez, Augusto; Riancho, Jose A.; Lapunzina, Pablo; Flores, Carlos; Carracedo, Angel; Diaz-Pena, Roberto; Scourge Cohort Grp Article ISI HLA (2023)
Bioinformatics analysis and single-cell RNA sequencing: elucidating the ubiquitination pathways and key enzymes in lung adenocarcinoma Lu, Tong; Xu, Ran; Wang, Chenghao; Zhou, Xiang; Parra-Medina, Rafael; Diaz-Pena, Roberto; Peng, Bo; Zhang, Linyou Article ISI JOURNAL OF THORACIC DISEASE (2023)
Expanding genetic diversity and polygenic risk scores application in rheumatic disease studies: a call for inclusive research Castro-Santos, Patricia; Adelowo, Olufemi; Diaz-Pena, Roberto Article ISI LANCET RHEUMATOLOGY (2023)
HLA alleles: important pieces to the COVID-19 puzzle Castro-Santos, Patricia; Carracedo, Angel; Diaz-Pena, Roberto Article ISI TRENDS IN IMMUNOLOGY (2023)
Rapid Idylla mutational testing to detect EGFR mutations in plasma samples and to monitor therapy in advanced non-small cell lung cancer patients Alicia Abalo; Laura Muinelo-Romay Article PATHOLOGY (2023)
Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next-generation sequencing panel: A preliminary study Óscar Rapado-González; Jenifer Brea-Iglesias; Aida Bao-Caamano; José-Luis López-Cedrún; Gabriel Triana-Martínez; María Arminda Santos; Laura Muinelo-Romay; Mónica Martínez-Fernández; María Mercedes Suárez-Cunqueiro Article CANCER MEDICINE (2023)
Top-of-the-art cytometry as a novel tool to aid in lung cancer immunotherapy Mondelo-Macia, Patricia; Leon-Mateos, Luis; Bernardo, David; Diaz-Pena, Roberto Article ISI TRANSLATIONAL LUNG CANCER RESEARCH (2023)
Advances of Genomic Medicine in Psoriatic Arthritis Carlos M Laborde; Leyre Larzabal; Álvaro González-Cantero Article Journal of Personalized Medicine (2022)
Pharmacogenetic Variation and Its Clinical Relevance in a Latin American Rural Population Jordi Olloquequi Article INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)
Plasma cell-free DNA and circulating tumor cells as prognostic biomarkers in small cell lung cancer patients Alicia Abalo; Manuel Mosquera-Presedo; María Mateos; Laura Muinelo-Romay Article TRANSLATIONAL LUNG CANCER RESEARCH (2022)
Polymorphisms in the FRMD4A Gene Are Associated With Chronic Obstructive Pulmonary Disease Susceptibility in a Latin American Population Raül F Julià; Juan F Montes; Jordi Olloquequi Article ARCHIVOS DE BRONCONEUMOLOGIA (2022)
Specific miRNA Profile in Chronic Obstructive Pulmonary Disease Related to Biomass Smoke Exposure Howard Dean Hosgood 3rd; Jordi Olloquequi Article ARCHIVOS DE BRONCONEUMOLOGIA (2022)
Acquisition of New Migratory Properties by Highly Differentiated CD4+CD28<SUP>null</SUP> T Lymphocytes in Rheumatoid Arthritis Disease Rioseras, Beatriz; Moro-Garcia, Marco Antonio; Garcia-Torre, Alejandra; Bueno-Garcia, Eva; Lopez-Martinez, Rocio; Iglesias-Escudero, Maria; Diaz-Pena, Roberto; Castro-Santos, Patricia; Arias-Guillen, Miguel; Alonso-Arias, Rebeca Article ISI JOURNAL OF PERSONALIZED MEDICINE (2021)
Acquisition of New Migratory Properties by Highly Differentiated CD4+CD28null T Lymphocytes in Rheumatoid Arthritis Disease Beatriz Rioseras; Marco Antonio Moro-García; Alejandra García-Torre; Eva Bueno-García; Rocio López-Martínez; Maria Iglesias-Escudero; Miguel Arias-Guillén; Rebeca Alonso-Arias Article Journal of Personalized Medicine (2021)
Circulating Free DNA and Its Emerging Role in Autoimmune Diseases Patricia Mondelo-Macía; Adrián Castillo-García; Laura Muinelo-Romay Article Journal of Personalized Medicine (2021)
Clinical potential of circulating free DNA and circulating tumour cells in patients with metastatic non-small-cell lung cancer treated with pembrolizumab Urbano Anido; Santiago Aguín; Ihab Abdulkader; María Sánchez-Ares; Alicia Abalo; Aitor Rodríguez-Casanova; Ángel Díaz-Lagares; Ramón Manuel Lago-Lestón; Laura Muinelo-Romay Article MOLECULAR ONCOLOGY (2021)
Current Status and Future Perspectives of Liquid Biopsy in Small Cell Lung Cancer Laura Muinelo-Romay Article Biomedicines (2021)
Immunotherapy in nonsmall-cell lung cancer: current status and future prospects for liquid biopsy Elena María Brozos-Vázquez; Luis León-Mateos; María Peña-Chilet; Rafael López-López Article CANCER IMMUNOLOGY IMMUNOTHERAPY (2021)
Personalized Medicine in Autoimmune Diseases Article ISI JOURNAL OF PERSONALIZED MEDICINE (2021)
Amerindian Ancestry Influences Genetic Susceptibility to Chronic Obstructive Pulmonary Disease Felix Boekstegers; Sergio Jaime; H Dean Hosgood Iii; Marc Miravitlles; Àlvar Agustí; Justo Lorenzo Bermejo; Jordi Olloquequi Article Journal of Personalized Medicine (2020)
Analysis of Killer Immunoglobulin-Like Receptor Genes in Colorectal Cancer Mondelo-Macia, P; de la Torre, AJM; Sanz-Pamplona, R Article ISI CELLS (2020)
Association analysis in a Latin American population revealed ethnic differences in rheumatoid arthritis-associated SNPs in Caucasian and Asian populations Article ISI Scientific Reports (2020)
Contribution of Multiplex Immunoassays to Rheumatoid Arthritis Management: From Biomarker Discovery to Personalized Medicine Carlos M Laborde Article Journal of Personalized Medicine (2020)
Detection of MET Alterations Using Cell Free DNA and Circulating Tumor Cells from Cancer Patients Valina, L; Aguin, S; Leon-Mateos, L; Suarez-Cunqueiro, M; Curiel, T; Calabuig-Farinas, S; Obrador-Hevia, A Article ISI CELLS (2020)
HLA-A, B, C and DRB1 alleles in a Chilean population from Talca Article ISI SCOPUS HLA (2020)
HLA-DRB1 alleles are associated with COPD in a Latin American admixed population Silva, Rafael; Hosgood III, Dean Article ARCHIVOS DE BRONCONEUMOLOGIA (2020)
HLA-DRB107:01 and08:02 Alleles Confer a Protective Effect Against ACPA-Positive Rheumatoid Arthritis in a Latin American Admixed Population Pinochet, Carmen Article ISI Biology 2025 (2020)
Interindividual Variation in Cardiorespiratory Fitness: A Candidate Gene Study in Han Chinese People Gaowa; Valenzuela, Pedro; He, Zihong Article GENES (2020)
Latin American Genes: The Great Forgotten in Rheumatoid Arthritis Article ISI JOURNAL OF PERSONALIZED MEDICINE (2020)
PRDM15 Is Associated with Risk of Chronic Obstructive Pulmonary Disease in a Rural Population in Chile Hosgood, H. Dean, III; Bermejo, Justo Lorenzo; Valdivia, Gonzalo; Silva, Rafael S. Article ISI RESPIRATION (2020)
The Genetics of Spondyloarthritis Article ISI JOURNAL OF PERSONALIZED MEDICINE (2020)
A Novel Saliva-Based miRNA Signature for Colorectal Cancer Diagnosis Rapado-Gonzalez, O; Majem, B; Alvarez-Castro, A; Abalo, A; Suarez-Cabrera, L; Suarez-Cunqueiro, MM Article ISI JOURNAL OF CLINICAL MEDICINE (2019)
Interaction between the functional SNP rs2070951 in NR3C2 gene and high levels of plasma corticotropin-releasing hormone associates to postpartum depression Gutiérrez-Zotes, A; Costas, J; Gelabert, E; Sans, T; Albacar, G; Ímaz, ML; Sanjuan, J; Vilella, E Article ARCHIVES OF WOMENS MENTAL HEALTH (2019)
Killer cell immunoglobulin-like receptor genotypes in a Chilean population from Talca Article ISI SCOPUS HUMAN IMMUNOLOGY (2018)
Epistasis, physical capacity-related genes and exceptional longevity: FNDC5 gene interactions with candidate genes FOXOA3 and APOE Zempo, H; Naito, H; Miyachi, M; Spuch, C; Emanuele, E; Hirose, N Article ISI SCOPUS BMC Genomics (2017)
ERAP1 and HLA-C interaction in inflammatory bowel disease in the Spanish population Marcos-Fernández R. Article ISI SCOPUS INNATE IMMUNITY (2017)
Genomics and epigenomics in rheumatic diseases: what do they provide in terms of diagnosis and disease management? Article ISI SCOPUS CLINICAL RHEUMATOLOGY (2017)
A Single Nucleotide Polymorphism in the Il17ra Promoter Is Associated with Functional Severity of Ankylosing Spondylitis Diaz-Bulnes, P Article ISI SCOPUS PloS one (2016)
HLA-B*40:01 Is Associated With Ankylosing Spondylitis in HLA-B27-positive Populations Vidal-Castiñeira, Jose Ramón Article ISI JOURNAL OF RHEUMATOLOGY (2016)
HLA-B*40:01 Is Associated with Ankylosing Spondylitis in HLA-B27-positive Populations Díaz-Peña, Roberto; Vidal-Castiñeira, Jose Ramón; López-Vázquez, Antonio; López-Larrea, Carlos. Article Indian Journal of Rheumatology (2016)
rs2802292 Polymorphism in the FOXO3A Gene and Exceptional Longevity in Two Ethnically Distinct Cohorts Article ISI MATURITAS (2016)
rs2802292 polymorphism in the FOXO3A gene and exceptional longevity in two ethnically distinct cohorts. Fuku, Noriyuki; Díaz-Peña, Roberto; Arai, Yasumichi; Abe, Yukiko; Pareja-Galeano, Helios; Sanchis-Gomar, Fabián; Santos-Lozano, Alejandro; Zempo, Hirofumi; Naito, Hisashi; Murakami, Haruka; Miyachi, Motohiko; Venturini, Letizia; Ricevuti, Giovanni; Nobuyoshi, Hirose; Emanuele, Enzo; Lucia, Alejandro Article Maturitas (2016)
Significant association of the KIR2DL3/HLA-C1 genotype with susceptibility to Crohn's disease Díaz-Peña, R; Vidal-Castineira, JR; Moro-Garcia, MA; Alonso-Arias, R; Castro-Santos, P Article ISI SCOPUS HUMAN IMMUNOLOGY (2016)
Activating Killer Immunoglobulin-Like Receptors Genes Are Associated With Increased Susceptibility to Ankylosing Spondylitis Queiro, R Article ISI CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2015)
Genomics, Proteomics and Metabolomics: Their Emerging Roles in the Discovery and Validation of Rheumatoid Arthritis Biomarkers Martínez-Laborde, C Article (2015)
Th17 response and autophagy - Main pathways implicated in the development of inflammatory bowel disease by genome-wide association studies Article REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS (2015)
Genetic study confirms association of HLA-DPA1*01:03 subtype with ankylosing spondylitis in HLA-B27-positive populations Díaz-Peña, R; Castro-Santos, P; Aransay, AM; Bruges-Armas, J; Lopez-Larrea, C Article ISI SCOPUS Human Immunology (2013)
A high density SNP genotyping approach within the 19q13 chromosome region identifies an association of a CNOT3 polymorphism with ankylosing spondylitis Regueiro, Maria; Pimentel-Santos, Fernando M.; Queiro, Ruben; Ballina, Javier; Alves, Helena Article ISI ANNALS OF THE RHEUMATIC DISEASES (2012)
Ankylosing spondylitis in three Sub-Saharan populations: HLA-B27 and HLA-B14 contribution Ouedraogo, D. D.; Sawadogo, S. A. Article ISI TISSUE ANTIGENS (2012)
Old and new HLA associations with ankylosing spondylitis Article ISI TISSUE ANTIGENS (2012)
Fine Mapping of a Major Histocompatibility Complex in Ankylosing Spondylitis Association of the HLA-DPA1 and HLA-DPB1 Regions Aransay, Ana M.; Rodriguez-Ezpeleta, Naiara; Mendibil, Inaki; Carlos Torre-Alonso, Juan; Bettencourt, Bruno F.; Mulero, Juan Article ISI ARTHRITIS AND RHEUMATISM (2011)
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility Evans, David M.; Spencer, Chris C. A.; Pointon, Jennifer J.; Su, Zhan; Harvey, David; Kochan, Grazyna; Opperman, Udo; Dilthey, Alexander; Pirinen, Matti; Stone, Millicent A.; et al. Article ISI NATURE GENETICS (2011)
Association of the KIR3DS1013 and KIR3DL1004 Alleles With Susceptibility to Ankylosing Spondylitis Luis Vicario, Jose; Solana, Rafael; Collantes, Eduardo Article ISI ARTHRITIS AND RHEUMATISM (2010)
Effect of Killer Immunoglobulin-Like Receptors in the Response to Combined Treatment in Patients with Chronic Hepatitis C Virus Infection Vidal-Castineira, J. R.; Martinez-Borra, J.; Melon, S. Article ISI JOURNAL OF VIROLOGY (2010)
CD8dim and NKG2D Expression Defines Related Subsets of CD4+ T Cells in HIV-infected Patients With Worse Prognostic Factors Sempere, A; Tricas, L; Asensi, V Article JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES (2009)
HLA-B27 polymorphism at position 116 critically influences the association with TAP/tapasin, intracellular trafficking and conformational homodimers formation Blanco-Gelaz, M. A.; Suarez-Alvareza, B. Article ISI MOLECULAR IMMUNOLOGY (2009)
Activating KIR genes are associated with ankylosing spondylitis in Asian populations Angel Blanco-Gelaz, Miguel; Bruges-Armas, Jacome; Ramon Vidal-Castineira, Jose Article ISI HUMAN IMMUNOLOGY (2008)
Influence of HLA-B5703 and HLA-B1403 on Susceptibility to Spondyloarthropathies in the Zambian Population Blanco-Gelaz, Miguel Angel; Njobvu, Panganani Article ISI JOURNAL OF RHEUMATOLOGY (2008)
The allele MICB*0050204, over-represented in the Caucasian population, has an additional exon resulting from a new splice junction sequence Martinez-Borra, Jesus; Rodrigo, Luis; Rodriguez-Rodero, Sandra; Fernandez-Morera, Juan Luis; Pruneda, Laura Article ISI HUMAN IMMUNOLOGY (2007)
Post-transplant soluble MICA and MICA antibodies predict subsequent heart graft outcome Lopez-Vazquez, Antonio; Diaz-Molina, Beatriz; Blanco-Garcia, Rosa M.; Alvarez-Lopez, M. Rocio; Lopez-Larrea, Carlos Article ISI TRANSPLANT IMMUNOLOGY (2006)


Pharmacoepigenetics of Rheumatic Disorders BookSection (2019)
KIR genes and their role in spondyloarthropathies BookSection (2009)


Molecular mechanisms of spondyloarthropathies BookWhole


Precision immunotherapy: TRBV9+T-cell depletion in ankylosing spondylitis Castro-Santos, Patricia; Diaz-Pena, Roberto Letter ISI RHEUMATOLOGY (2024)
Rapid Idylla mutational testing to detect <i>EGFR</i> mutations in plasma samples and to monitor therapy in advanced non-small cell lung cancer patients Mondelo-Macia, Patricia; Lago-Leston, Ramon Manuel; Rodriguez-Casanova, Aitor; Abalo, Alicia; Diaz-Lagares, Angel; Garcia-Gonzalez, Jorge; Leon-Mateos, Luis; Diaz-Pena, Roberto; Muinelo-Romay, Laura Letter ISI PATHOLOGY (2023)
Polymorphisms in the <i>FRMD4A</i> Gene Are Associated With Chronic Obstructive Pulmonary Disease Susceptibility in a Latin American Population Diaz-Pena, Roberto; Julia, Raul F.; Montes, Juan F.; Silva, Rafael S.; Olloquequi, Jordi Letter ISI ARCHIVOS DE BRONCONEUMOLOGIA (2022)


A Personalized Medicine Approach to Improve the Prediction of anti-TNF Response in Patients with Rheumatoid Arthritis Proyecto (2022)
Brecan Risk © personalised test: towards a more efficient and targeted prevention in Breast Cancer Sistemas Genómicos SL Proyecto (2017)
Identificación de marcadores de diagnóstico, pronóstico y seguimiento mediante el análisis de Biopsia Líquida en pacientes con cáncer Proyecto (2017)
Involvement of IL-15 in the migration of CD4+CD28null T cells in patients with rheumatoid arthritis. Study of potential inhibitory mechanisms. FONDECYT (1151048) Proyecto 2015-2017 Coinvestigador(a)
Estudio de variabilidad de alelos HLA-B en pacientes de Espondilitis Anquilosante en Población Chilena Proyecto Interno Universidad Autónoma de Chile (37) Proyecto 2013-2014 Inv. Principal
Genetic study of RA in latinoamerican populations=> High-density SNP genotyping in candidate genes and pharmacogenetics of metrotrexate FONDECYT (11130198) Proyecto 2013-2016 Inv. Responsable
Implicación de los receptores KIR en la susceptibilidad a la Enfermedad Inflamatoria Intestinal Proyecto interno. Universidad Autónoma de Chile (36) Proyecto 2013-2014 Coinvestigador(a)
Estudio del efecto de dosis génica en la patogenia de la espondilitis anquilosante mediante secuenciación masiva de regiones exónicas e identificación de CNVs en individuos HLA-B27 positivos Fundación para el Fomento en Asturias de la Investigación Científica Aplicada y la Tecnología (FICYT) Proyecto 2010-2012 Investigador(a)
Genotipado mediante SNPs de alta densidad de las regiones MHC (6p21) y LCR (19q3.4), en poblaciones HLA-B27 de diferente origen étnico. Análisis de marcadores de susceptibilidad genética adicionales en espondilitis anquilosante Fundación para el Fomento en Asturias de la Investigación Científica Aplicada y la Tecnología (FICYT) Proyecto 2007-2009 Investigador(a)


From Inhalation to Neurodegeneration: Air Pollution as a Modifiable Risk Factor for Alzheimer's Disease Olloquequi, Jordi; Diaz-Pena, Roberto; Verdaguer, Ester; Ettcheto, Miren; Auladell, Carme; Camins, Antoni Review ISI INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2024)
Unveiling the Significance of HLA and KIR Diversity in Underrepresented Populations Santiago-Lamelas, Lucia; Castro-Santos, Patricia; Carracedo, Angel; Olloquequi, Jordi; Diaz-Pena, Roberto Review ISI BIOMEDICINES (2024)
Understanding the role of killer cell immunoglobulin-like receptors in pregnancy complications DÃaz-PeÃ±a R.; de los Santos M.J. Review ISI SCOPUS JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2019)
Genetics of rheumatoid arthritis: a new boost is needed in Latin American populations Review ISI SCOPUS REVISTA BRASILEIRA DE REUMATOLOGIA (2016)
Genetics of ankylosing spondylitis Castro-Santos, P; Díaz-Peña, R Review ISI REVISTA MEDICA DE CHILE (2014)
Genética, HLA-B27 y espondilitis anquilosante: 40 años Patricia Castro-Santos; Miguel A Gutiérrez; Roberto Díaz-Peña Review SCIELO REVISTA MEDICA DE CHILE (2014)