About
The GCATlGenomes For Life group (GCAT lab) is a biomedical research group that leads the longitudinal and population cohort study of the genes of Catalonia: Genomes for Life. Cohort Study of the Genomes of Catalonia. This is a reference project in the field of genomics and molecular epidemiology, driven by the desire to transform scientific knowledge into a useful resource for public health and personalized medicine.
Launched over ten years ago, the project aims to advance the prediction, prevention, and personalised treatment of complex and chronic diseases such as diabetes, cardiovascular and respiratory pathologies or cancer. With a cohort of 20,000 volunteers from all over Catalonia, the GCAT lab has built a highly valuable scientific resource that integrates genetic, clinical, environmental, and lifestyle data.
Through its connection with public health records via the PADRIS programme, the project offers real-time follow-up of participants and a unique perspective on the transition from health to disease. This approach enables the study of how the interaction between the genome, the exposome, and other determinants influences disease risk and response to treatment.
The GCAT lab plays a cross-cutting and driving role in population molecular epidemiology research, making a significant contribution to the development of open science, biomedical innovation, and evidence-based health policies. Its transdisciplinary and collaborative model has fostered the establishment of partnerships with centres of excellence both nationally and internationally, as well as active participation in global research consortiums.
With a clear commitment to serving the scientific community, one of the strategic pillars of the GCAT lab is to provide FAIR data (Findable, Accessible, Interoperable, Reusable) and knowledge that can be transferred to clinical practice and society. The three main axes of the project - data generation, its availability and the translational application of knowledge - position the GCAT as a key scientific infrastructure within the health research and innovation system.
Keywords: genome, multiomics, exposome, cohort, digital health, non-communicable diseases, molecular epidemiology, FAIR data, international collaboration, open science
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Group Leader
Team
Laboratory Manager Postdoctoral fellow
Susana Iraola-Guzmán, PhD(ELIMINAR)
Data Analyst Postdoctoral fellow
Xavier Farré Ramón, PhD(ELIMINAR)
Data Analyst PhD student
Natàlia Blay(ELIMINAR)
Data Analyst Bioinformaticians
Aikaterini Lymperidou(ELIMINAR)
May Myat Mon(ELIMINAR)
Laboratory technician
Francisco Fernández(ELIMINAR)
Undergraduate student/Biomedical engineer
Mireia Gasco Agorreta(ELIMINAR)
Scientific Collaborators
Victor Moreno (GCAT-ICO-IDIBELL collaborator)
David Torrents (GCAT-BSC collaborator). Life Sciences - Computational Genomics, Barcelona Supercomputing Center (BSC-CNS), Joint BSC-CRG-IRB Research Program in Computational Biology, Barcelona
Manolis Kogevinas (GCAT-ISGLOBAL collaborator). Barcelona Institute for Global Health (ISGlobal Barcelona), Barcelona
Lauro Sumoy (GCAT-IGTP collaborator). High Content Genomics and Bioinformatics Unit, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias i Pujol Research Institute (IGTP), Badalona
Ignacio Blanco (GCAT-HUGTiP collaborator). Assessment and Clinical Genetics Program, HUGTiP, Badalona
Research lines
Molecular epidemiology of multimorbidity
They investigate the evolution and interaction of various chronic diseases - such as diabetes, heart failure, stroke, and mental health disorders - over time, by tracking clinical histories and multi-omic data (genomics, epigenetics, proteomics, metabolomics, etc.).
It has been shown that chronic diseases do not manifest in the same way when they occur alone as when they co-occur with others, a phenomenon known as multimorbidity. This condition is associated with greater clinical severity, increased use of healthcare services, and a lower quality of life. The aim is to understand these complex trajectories in order to improve prediction, prevention, and the delivery of more personalised healthcare.
Molecular epidemiology of COVID-19
They analyse the genetic, environmental, and social factors that influence susceptibility, severity, and long-term consequences of COVID-19, using a molecular epidemiology approach and data integration.
The GCAT_COVICAT subcohort, developed in collaboration with the Barcelona Institute for Global Health (ISGlobal), is a key tool for studying the impact of the pandemic. It allows for a focused evaluation of the effects on mental health and the workplace, areas that are fundamental to understanding the global consequences of the health crisis.
Molecular epidemiology of environmental health
They assess how environmental and social exposures throughout life – such as pollution, diet, or socioeconomic status - affect health and disease risk, particularly in cardiovascular, metabolic, and respiratory conditions.
Using integrated approaches based on the exposome concept, they measure and quantify the impact of factors such as air pollution, access to green spaces, urbanisation, noise, and light pollution. They participate in large international cohorts, such as the EXPANSE and IHEN projects, to integrate this knowledge into personalised medicine and guide effective public health actions.
Digital ecosystems for health research
They promote the creation of a digital health space that enables the secure integration and analysis of clinical, genomic, and environmental data. They develop tools for data analysis, visualisation, and secondary use in research and personalised medicine, taking advantage of the resources available in the European health data space. These tools include network search platforms such as BEACON, online dictionaries and standardised codecs like MICA, and federated analysis platforms such as DATASHIELD. Additionally, they use analytical tools like GCAT Pheweb and PolyGenie, which allow the integrated exploitation of the impact of large-scale data.
Active projects
END-VOC. ENDing COVID 19 Variants of Concern through cohort studies
PI: Rafael de Cid (IGTP) (partnership)
Funding agency: European Union Views
Agency code: PI/101046314
Start date: 2022
End date: 2025
Endvoc - Keeping tabs on SARS-CoV-2
Funded by the European Union Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the European Union of European Health and Digital Executive Agency. Neither the European Union nor the granting authority can be held responsible for them.
Collaborative Cohorts Reassembled Data To Study Mechanisms And Longterm Incidence Of Chronic Diseases
PI: Jaume Marrugat (IMIM)
Funding agency: Instituto de Salud Carlos III (ISCIII)
Start date: 2023
End date: 2028
More information
CUPID "Crono-nutrición y enfermedades cardiometabólicas: una perspectiva epigenética"
PI: Camille Lassale (ISGlobal)
CoPI: Rafael de Cid (IGTP)
Agency: La Marató TV3
Start date: March 2024
End date: February 2027
GEPETO. Genome Profiling in the GCAT, an Electronic-Health-Record population-based cohort study to improve prevention, diagnosis and treatment of common diseases by using PRSs
PI Rafael de Cid (IGTP)
Funding agency: MCYT
Agency code TED2021-130626B-I00
Start date: 2023
End date: 2025
DATOS-CAT. Implementación y análisis de bases de datos en medicina de precisión
PI: Rafael de Cid (IGTP) (partnership)
Funding agency: Planes Complementarios, Instituto de Salud Carlos III (ISCIII)
Agency code: DATOS-CAT
Start date: 2023
End date: 2025
Past projects
IMPaCTT2D. ImpactT2D: una estrategia genómica para implementar medicina de precisión en la diabetes tipo 2
PI: Jorge Ferrer (CRG)
Funding agency: Instituto de Salud Carlos III (ISCIII)
Agency code: PMP21/00067
Start date: 2021
End date: 2024
COVICAT - CONTENT. Cohorte de COVID-19 en España: dinámica social, salud mental y desigualdades
PI: Manolis Kogevinas (ISGlobal), Rafael de Cid (IGTP)
Funding agency: "la Caixa" Social Research grant
Agency code: SR20-01024
Start date: 2020
End date: 2023
IA4T2d. Desarrollo e implementación de modelos integrados de inteligencia artificial para la predicción del riesgo de la Diabetes de Tipo 2
PI: Rafael de Cid (IGTP), David Torrents (BSC)
Funding agency: Planes Complementarios, Instituto de Salud Carlos III (ISCIII)
Agency code: B7251
Start date: 2023
End date: 2024
CaIMCO. Biomarcadors proteòmics cardiometabòlics i immunitaris de la Covid-19 per a l'avaluació clínica de la infecció, la gravetat de la malaltia i les complicacions postpandèmiques de salut
PI: Rafael de Cid (IGTP)
Funding agency: La Marató TV3
Agency code: 167/C/2021
Start date: 2022
End date: 2024
GeoINF+ project. Genetic study of the impact of gEographic environmental exposure on INFlamatory markers in the adult population
PI: Rafael de Cid (IGTP)
Funding agency: MCYT, ISCIII
Agency code: PI18/01512
Start date: 2019
End date: 2023
GeoInf+: Exposome Study. GCAT Health and Environment
Scientific publications
Highlighted publications
Carreras-Torres R, Galván-Femenía I, Farré X, Cortés B, Díez-Obrero V, Carreras A, Moratalla-Navarro F, Iraola-Guzmán S, Blay N, Obón-Santacana M, Moreno V, de Cid R. Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk. Genome Med. 2024 Oct 24;16(1):122. DOI: 10.1186/s13073-024-01397-2.
COMPASS Consortium; INVENT Consortium; Dutch Parelsnoer Initiative (PSI) Cerebrovascular Disease Study Group; Estonian Biobank; PRECISE4Q Consortium. Stroke genetics informs drug discovery and risk prediction across ancestries. Nature. 2022 Nov;611(7934):115-123. DOI: 10.1038/s41586-022-05165-3.
Obón-Santacana M, Vilardell M, Carreras A, Duran X, Velasco J, Galván-Femenía I, Alonso T, Puig L, Sumoy L, Duell EJ, Perucho M, Moreno V, de Cid R. GCATlGenomes for life: a prospective cohort study of the genomes of Catalonia. BMJ Open. 2018 Mar 27;8(3):e018324. DOI: 10.1136/bmjopen-2017-018324.
Severe Covid-19 GWAS Group. Genomewide Association Study of Severe Covid-19 with Respiratory Failure. N Engl J Med. 2020 Oct 15;383(16):1522-1534. DOI: 10.1056/NEJMoa2020283.
Valls-Margarit J, Galván-Femenía I, Matías-Sánchez D, Blay N, Puiggròs M, Carreras A, Salvoro C, Cortés B, Amela R, Farre X, Lerga-Jaso J, Puig M, Sánchez-Herrero JF, Moreno V, Perucho M, Sumoy L, Armengol L, Delaneau O, Cáceres M, de Cid R, Torrents D. GCATlPanel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing. Nucleic Acids Res. 2022 Mar 21;50(5):2464-2479. DOI: 10.1093/nar/gkac076.
All publications
Blay N, Carrasco-Ribelles LA, Farré X, Iraola-Guzmán S, Danés-Castells M, Violán C, de Cid R. Weighting health-related estimates in the GCAT cohort and the general population of Catalonia. Sci Rep. 2025 May 16;15(1):16984. DOI: 10.1038/s41598-025-01284-9.
Hernáez Á, Camps-Vilaró A, Polo-Alonso S, Subirana I, Ramos R, de Cid R, Rodríguez-Artalejo F, Elosua R, Chirlaque MD, Amiano P, Bermúdez-López M, Guevara M, Cinza-Sanjurjo S, Sánchez MJ, de León AC, Laclaustra M, Rojo-Martínez G, Guembe-Suescun MJ, Pérez-Gómez B, Vega-Alonso T, Torán-Monserrat P, Lora-Pablos D, Huerta JM, Valdivielso JM, Dégano IR, Félix-Redondo FJ, Gandarillas AM, Valdés S, Mundet-Tuduri X, Sánchez PL, Martín-Sánchez V, Rigo F, Alonso-Sampedro M, Moreno-Iribas C, Martín-Escudero JC, Delgado E, Grau M, Urrutia I, Ovejero D, Quintela I, Martí-Lluch R, Blay N, Banegas JR, Tizón-Marcos H, Gómez JH, Aizpurua A, Castro-Boqué E, Delfrade J, Prieto-Díaz MÁ, Rodríguez-Barranco M, Almeida-González D, Moreno-Franco B, Oualla-Bachiri W, Sayón-Orea C, Plans-Beriso E, Lozano JE, López-Lifante VM, Cancelas-Navia P, Cabrera-Castro N, Cambray S, Zacarías-Pons L, Fernández-Bergés D, Donoso-Navarro E, Maldonado-Araque C, Franch-Nadal J, Dorado-Díaz PI, Villarín-Castro A, Frontera-Juan G, Gude F, Andueza N, Téllez-Plaza M, Ares-Blanco J, Cruz R, Ribas-Aulinas M, Barretina J, Guallar-Castillón P, Caínzos-Achirica M, Colorado-Yohar SM, Llorente A, Diaz-Tocados JM, Ardanaz E, Micó-Pérez RM, Fernandez-Martinez NF, Del Cristo Rodríguez-Pérez M, Cenarro A, Calle-Pascual AL, Marrugat J. Cohort profile: the CORDELIA study (Collaborative cOhorts Reassembled Data to study mEchanisms and Longterm Incidence of chronic diseAses). Eur J Epidemiol. 2025 May 12. DOI: 10.1007/s10654-025-01229-6.
Garcia-Calleja J, Biagini SA, de Cid R, Calafell F, Bosch E. Inferring past demography and genetic adaptation in Spain using the GCAT cohort. Sci Rep. 2025 Apr 24;15(1):14225. DOI: 10.1038/s41598-025-98272-w.
Guimbaud JB, Calabre E, de Cid R, Lassale C, Kogevinas M, Maître L, Cazabet R. An informed machine learning based environmental risk score for hypertension in European adults. Artif Intell Med. 2025 Apr 22;165:103139. DOI: 10.1016/j.artmed.2025.103139. Ahead of print.
Kogevinas M, Karachaliou M, Espinosa A, Iraola-Guzmán S, Castaño-Vinyals G, Delgado-Ortiz L, Farré X, Blay N, Pearce N, Bosch de Basea M, Nogués EA, Dobaño C, Moncunill G, de Cid R, Garcia-Aymerich J. Risk, determinants, and persistence of long-COVID in a population-based cohort study in Catalonia. BMC Med. 2025 Mar 14;23(1):140. DOI: 10.1186/s12916-025-03974-7.
Karachaliou M, Espinosa A, Farré X, Blay N, Castaño-Vinyals G, Iraola-Guzmán S, Rubio R, Vidal M, Jiménez A, Bañuls M, Aguilar R, Garcia-Aymerich J, Dobaño C, Kogevinas M, Moncunill G, de Cid R. Mental illness and antibody responses after COVID-19 vaccination in a prospective population-based study in Catalonia. Vaccine. 2025 Jan. Volume 45. DOI: doi.org/10.1016/j.vaccine.2024.126591.
Williams MO, Buekers J, Castaño-Vinyals G, de Cid R, Delgado-Ortiz L, Espinosa A, Garcia-Aymerich J, Koch S, Kogevinas M, Viola M, Whitmarsh L, Chevance G. Climate anxiety and its association with health behaviours and generalized anxiety: An intensive longitudinal study. Br J Health Psychol. 2024 Nov;29(4):1080-1095. DOI: 10.1111/bjhp.12746.
Cárcel-Márquez J, Muiño E, Gallego-Fabrega C, Cullell N, Lledós M, Llucià-Carol L, Martín-Campos JM, Sobrino T, Campos F, Castillo J, Freijo M, Arenillas JF, Obach V, Álvarez-Sabín J, Molina CA, Ribó M, Jiménez-Conde J, Roquer J, Muñoz-Narbona L, Lopez-Cancio E, Millán M, Diaz-Navarro R, Vives-Bauza C, Serrano-Heras G, Segura T, Ibañez L, Heitsch L, Delgado P, Dhar R, Krupinski J, Prats-Sánchez L, Camps-Renom P, Guasch M, Ezcurra G, Blay N, Sumoy L, de Cid R, Montaner J, Cruchaga C, Lee JM, Martí-Fàbregas J, Férnandez-Cadenas I. Sex-Stratified Genome-Wide Association Study in the Spanish Population Identifies a Novel Locus for Lacunar Stroke. Stroke. 2024 Oct;55(10):2462-2471. DOI: 10.1161/STROKEAHA.124.047833.
Benito GV, Goldberg X, Brachowicz N, Castaño-Vinyals G, Blay N, Espinosa A, Davidhi F, Torres D, Kogevinas M, de Cid R, Petrone P. Machine learning for anxiety and depression profiling and risk assessment in the aftermath of an emergency. Artif Intell Med. 2024 Sep 29;157:102991. DOI: 10.1016/j.artmed.2024.102991.
Saucy A, Coloma F, Olmos S, Åström C, Blay N, Boer JMA, Dadvand P, de Bont J, de Cid R, de Hoogh K, Dimakopoulou K, Gehring U, Huss A, Ibi D, Katsouyanni K, Koppelman G, Ljungman P, Melén E, Nieuwenhuijsen M, Nobile F, Peters A, Pickford R, Vermeulen R, Vienneau D, Vlaanderen J, Wolf K, Yu Z, Samoli E, Stafoggia M, Tonne C; EXPANSE Project Team. Socioeconomic Inequalities in the External Exposome in European Cohorts: The EXPANSE Project. Environ Sci Technol. 2024 Sep 17;58(37):16248-16257. DOI: 10.1021/acs.est.4c01509.
Pons-Muzzo L, de Cid R, Obón-Santacana M, Straif K, Papantoniou K, Santonja I, Kogevinas M, Palomar-Cros A, Lassale C. Sex-specific chrono-nutritional patterns and association with body weight in a general population in Spain (GCAT study). Int J Behav Nutr Phys Act. 2024 Sep 12;21(1):102. DOI: 10.1186/s12966-024-01639-x.
Karachaliou M, Ranzani O, Espinosa A, Iraola-Guzmán S, Castaño-Vinyals G, Vidal M, Jiménez A, Bañuls M, Nogués EA, Aguilar R, Garcia-Aymerich J, de Cid R, Dobaño C, Moncunill G, Kogevinas M. Antibody responses to common viruses according to COVID-19 severity and postacute sequelae of COVID-19. J Med Virol. 2024 Sep;96(9):e29862. DOI: 10.1002/jmv.29862.
Lymperidou A, Martinez-Gonzalez J, Bracons Cucó G, Frid S, de Cid R, Labarga A. DATOS-CAT: OMOP-Common Data Model for the Standardization, Integration and Analysis of Population-Based Biomedical Data in Catalonia. Stud Health Technol Inform. 2024 Aug 22;316:200-201. DOI: 10.3233/SHTI240378.
Boos J, van der Made CI, Ramakrishnan G, Coughlan E, Asselta R, Löscher BS, Valenti LVC, de Cid R, Bujanda L, Julià A, Pairo-Castineira E, Baillie JK, May S, Zametica B, Heggemann J, Albillos A, Banales JM, Barretina J, Blay N, Bonfanti P, Buti M, Fernandez J, Marsal S, Prati D, Ronzoni L, Sacchi N; Spanish/Italian Severe COVID-19 Sequencing group; GenOMICC Investigators; Schultze JL, Riess O, Franke A, Rawlik K, Ellinghaus D, Hoischen A, Schmidt A, Ludwig KU. Stratified analyses refine association between TLR7 rare variants and severe COVID-19. HGG Adv. 2024 Jun 28;5(4):100323. DOI: 10.1016/j.xhgg.2024.100323.
Farré X, Blay N, Espinosa A, Castaño-Vinyals G, Carreras A, Garcia-Aymerich J, Cardis E, Kogevinas M, Goldberg X, de Cid R. Decoding depression by exploring the exposome-genome edge amidst COVID-19 lockdown. Sci Rep. 2024 Jun 12;14(1):13562. DOI: 10.1038/s41598-024-64200-7.
Pardo-Cea MA, Farré X, Esteve A, Palade J, Espín R, Mateo F, Alsop E, Alorda M, Blay N, Baiges A, Shabbir A, Comellas F, Gómez A, Arnan M, Teulé A, Salinas M, Berrocal L, Brunet J, Rofes P, Lázaro C, Conesa M, Rojas JJ, Velten L, Fendler W, Smyczynska U, Chowdhury D, Zeng Y, He HH, Li R, Van Keuren-Jensen K, de Cid R, Pujana MA. Biological basis of extensive pleiotropy between blood traits and cancer risk. Genome Med. 2024 Feb 2;16(1):21. DOI: 10.1186/s13073-024-01294-8.
Díez-Villanueva A, Martín B, Moratalla-Navarro F, Morón-Duran FD, Galván-Femenía I, Obón-Santacana M, Carreras A, de Cid R, Peinado MA, Moreno V. Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios. Sci Rep. 2023 Dec 2;13(1):21266. DOI: 10.1038/s41598-023-48517-3.
Severe COVID-19 GWAS group. Mechanisms by which the cystic fibrosis transmembrane conductance regulator may influence SARS-CoV-2 infection and COVID-19 disease severity. FASEB J. 2023 Nov;37(11):e23220. DOI: 10.1096/fj.202300077R.
COVID-19 Host Genetics Initiative. A second update on mapping the human genetic architecture of COVID-19. Nature. 2023 Sep;621(7977):E7-E26. DOI: 10.1038/s41586-023-06355-3.
Baretta D, Koch S, Cobo I, Castaño-Vinyals G, de Cid R, Carreras A, Buekers J, Garcia-Aymerich J, Inauen J, Chevance G. Resilience characterized and quantified from physical activity data: A tutorial in R. Psychol Sport Exerc. 2023 Mar;65:102361. DOI: 10.1016/j.psychsport.2022.102361.
Lin S, Gao X, Degenhardt F, Qian Y, Liu T, Ramon XF, Hadi SS, Romero-Gómez M, Fernández J, Albillos A, Ferret MB, Bujanda L, Julià A, de Cid R, Asselta R, Franke A, Liu F. Genome-wide epistasis study highlights genetic interactions influencing severity of COVID-19. Eur J Epidemiol. 2023 Aug;38(8):883-889. DOI: 10.1007/s10654-023-01020-5.
Kogevinas M, Karachaliou M, Espinosa A, Aguilar R, Castaño-Vinyals G, Garcia-Aymerich J, Carreras A, Cortés B, Pleguezuelos V, Papantoniou K, Rubio R, Jiménez A, Vidal M, Serra P, Parras D, Santamaría P, Izquierdo L, Cirach M, Nieuwenhuijsen M, Dadvand P, Straif K, Moncunill G, de Cid R, Dobaño C, Tonne C. Long-Term Exposure to Air Pollution and COVID-19 Vaccine Antibody Response in a General Population Cohort (COVICAT Study, Catalonia). Environ Health Perspect. 2023 Apr;131(4):47001. DOI: 10.1289/EHP11989.
Farré X, Blay N, Cortés B, Carreras A, Iraola-Guzmán S, de Cid R. Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort. Genes (Basel). 2023 Jan 5;14(1):149. DOI: 10.3390/genes14010149.
García-Fernández C, Lizano E, Telford M, Olalde Í, de Cid R, Larmuseau MHD, M de Pancorbo M, Calafell F. Y-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition. Sci Rep. 2022 Dec 1;12(1):20708. DOI: 10.1038/s41598-022-25200-7.
Delgado-Ortiz L, Carsin AE, Merino J, Cobo I, Koch S, Goldberg X, Chevance G, Bosch de Basea M, Castaño-Vinyals G, Espinosa A, Carreras A, Cortes Martínez B, Straif K, de Cid R, Kogevinas M, Garcia-Aymerich J. Changes in Population Health-Related Behaviors During a COVID-19 Surge: A Natural Experiment. Ann Behav Med. 2023 Apr 5;57(3):216-226. DOI: 10.1093/abm/kaac054.
Font-Porterias N, García-Fernández C, Aizpurua-Iraola J, Comas D, Torrents D, de Cid R, Calafell F. Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia. Forensic Sci Int Genet. 2022 Nov;61:102783. DOI: 10.1016/j.fsigen.2022.102783.
Karachaliou M, Moncunill G, Espinosa A, Castaño-Vinyals G, Rubio R, Vidal M, Jiménez A, Prados E, Carreras A, Cortés B, Blay N, Bañuls M, Pleguezuelos V, Melero NR, Serra P, Parras D, Izquierdo L, Santamaría P, Carolis C, Papantoniou K, Goldberg X, Aguilar R, Garcia-Aymerich J, de Cid R, Kogevinas M, Dobaño C. SARS-CoV-2 infection, vaccination, and antibody response trajectories in adults: a cohort study in Catalonia. BMC Med. 2022 Sep 16;20(1):347. DOI: 10.1186/s12916-022-02547-2.
COVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19. Nature. 2022 Aug;608(7921):E1-E10. DOI: 10.1038/s41586-022-04826-7.
Cárcel-Márquez J, Muiño E, Gallego-Fabrega C, Cullell N, Lledós M, Llucià-Carol L, Sobrino T, Campos F, Castillo J, Freijo M, Arenillas JF, Obach V, Álvarez-Sabín J, Molina CA, Ribó M, Jiménez-Conde J, Roquer J, Muñoz-Narbona L, Lopez-Cancio E, Millán M, Diaz-Navarro R, Vives-Bauza C, Serrano-Heras G, Segura T, Ibañez L, Heitsch L, Delgado P, Dhar R, Krupinski J, Delgado-Mederos R, Prats-Sánchez L, Camps-Renom P, Blay N, Sumoy L, de Cid R, Montaner J, Cruchaga C, Lee JM, Martí-Fàbregas J, Férnandez-Cadenas I. A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype. Front Cardiovasc Med. 2022 Jul 8;9:940696. DOI: 10.3389/fcvm.2022.940696.
COVICAT study group, Aachen Study (COVAS). Detailed stratified GWAS analysis for severe COVID-19 in four European populations. Hum Mol Genet. 2022 Nov 28;31(23):3945-3966. DOI: 10.1093/hmg/ddac158.
Goldberg X, Castaño-Vinyals G, Espinosa A, Carreras A, Liutsko L, Sicuri E, Foraster M, O'Callaghan-Gordo C, Dadvand P, Moncunill G, Dobaño C, Cortés B, Pleguezuelos V, Straif K, Garcia-Aymerich J, de Cid R, Cardis E, Kogevinas M. Mental health and COVID-19 in a general population cohort in Spain (COVICAT study). Soc Psychiatry Psychiatr Epidemiol. 2022 Dec;57(12):2457-2468. DOI: 10.1007/s00127-022-02303-0.
GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative. Whole-genome sequencing reveals host factors underlying critical COVID-19. Nature. 2022 Jul;607(7917):97-103. DOI: 10.1038/s41586-022-04576-6.
Farré X, Espín R, Baiges A, Blommaert E, Kim W, Giannikou K, Herranz C, Román A, Sáez B, Casanova Á, Ancochea J, Valenzuela C, Ussetti P, Laporta R, Rodríguez-Portal JA, van Moorsel CHM, van der Vis JJ, Quanjel MJR, Tena-Garitaonaindia M, Sánchez de Medina F, Mateo F, Molina-Molina M, Won S, Kwiatkowski DJ, de Cid R, Pujana MA. Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function. ERJ Open Res. 2022 Jan 24;8(1):00375-2021. DOI: 10.1183/23120541.00375-2021.
Rofes P, Pineda M, Feliubadaló L, Menéndez M, de Cid R, Gómez C, Montes E, Capellá G, Brunet J, Del Valle J, Lázaro C. RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant. Sci Rep. 2021 Nov 25;11(1):22948. DOI: 10.1038/s41598-021-02465-y.
Kogevinas M, Castaño-Vinyals G, Karachaliou M, Espinosa A, de Cid R, Garcia-Aymerich J, Carreras A, Cortés B, Pleguezuelos V, Jiménez A, Vidal M, O'Callaghan-Gordo C, Cirach M, Santano R, Barrios D, Puyol L, Rubio R, Izquierdo L, Nieuwenhuijsen M, Dadvand P, Aguilar R, Moncunill G, Dobaño C, Tonne C. Ambient Air Pollution in Relation to SARS-CoV-2 Infection, Antibody Response, and COVID-19 Disease: A Cohort Study in Catalonia, Spain (COVICAT Study). Environ Health Perspect. 2021 Nov;129(11):117003. DOI: 10.1289/EHP9726.
Karachaliou M, Moncunill G, Espinosa A, Castaño-Vinyals G, Jiménez A, Vidal M, Santano R, Barrios D, Puyol L, Carreras A, Mayer L, Rubio R, Cortés B, Pleguezuelos V, O'Callaghan-Gordo C, Fossati S, Rivas I, Casabonne D, Vrijheid M, Izquierdo L, Aguilar R, Basagaña X, Garcia-Aymerich J, de Cid R, Dobaño C, Kogevinas M. Infection induced SARS-CoV-2 seroprevalence and heterogeneity of antibody responses in a general population cohort study in Catalonia Spain. Sci Rep. 2021 Nov 3;11(1):21571. DOI: 10.1038/s41598-021-00807-4.
Franco S, Horneros J, Soldevila L, Ouchi D, Galván-Femenía I, de Cid R, Tenesa M, Bechini J, Perez R, Llibre JM, Clotet B, Tural C, Martínez MA. Single nucleotide polymorphisms in PNPLA3, ADAR-1 and IFIH1 are associated with advanced liver fibrosis in patients co-infected with HIV-1//hepatitis C virus. AIDS. 2021 Dec 1;35(15):2497-2502. DOI: 10.1097/QAD.0000000000003066.
Catasús N, Garcia B, Galván-Femenía I, Plana A, Negro A, Rosas I, Ros A, Amilibia E, Becerra JL, Hostalot C, Rocaribas F, Bielsa I, Lazaro Garcia C, de Cid R, Serra E, Blanco I, Castellanos E; NF2 Spanish National Reference Centre HUGTP-ICO-IGTP. Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component. J Med Genet. 2022 Jul;59(7):678-686. DOI: 10.1136/jmedgenet-2020-107548.
COVID-19 Host Genetics Initiative. Mapping the human genetic architecture of COVID-19. Nature. 2021 Dec;600(7889):472-477. DOI: 10.1038/s41586-021-03767-x.
Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C. BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort. Genes (Basel). 2021 Jan 23;12(2):150. DOI: 10.3390/genes12020150.
Galván-Femenía I, Barceló-Vidal C, Sumoy L, Moreno V, de Cid R, Graffelman J. A likelihood ratio approach for identifying three-quarter siblings in genetic databases. Heredity (Edinb). 2021 Mar;126(3):537-547. DOI: 10.1038/s41437-020-00392-8.
Stradella A, Del Valle J, Rofes P, Vargas-Parra G, Salinas M, González S, Montes E, López-Doriga A, Gómez C, de Cid R, Darder E, Teulé A, Solanes A, Munté E, Capellà G, Pineda M, Feliubadaló L, Brunet J, Lázaro C. ERCC3, a new ovarian cancer susceptibility gene? Eur J Cancer. 2020 Dec;141:1-8. DOI: 10.1016/j.ejca.2020.09.023.
Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients. Hum Mutat. 2020 Dec;41(12):2128-2142. DOI: 10.1002/humu.24110.
Palomero L, Galván-Femenía I, de Cid R, Espín R, Barnes DR, Cimba, Blommaert E, Gil-Gil M, Falo C, Stradella A, Ouchi D, Roso-Llorach A, Violan C, Peña-Chilet M, Dopazo J, Extremera AI, García-Valero M, Herranz C, Mateo F, Mereu E, Beesley J, Chenevix-Trench G, Roux C, Mak T, Brunet J, Hakem R, Gorrini C, Antoniou AC, Lázaro C, Pujana MA. Immune Cell Associations with Cancer Risk. iScience. 2020 Jul 24;23(7):101296. DOI: 10.1016/j.isci.2020.101296.
Del Valle J, Rofes P, Moreno-Cabrera JM, López-Dóriga A, Belhadj S, Vargas-Parra G, Teulé À, Cuesta R, Muñoz X, Campos O, Salinas M, de Cid R, Brunet J, González S, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. Cancers (Basel). 2020 Mar 30;12(4):829. DOI: 10.3390/cancers12040829.
Pujantell M, Badia R, Galván-Femenía I, Garcia-Vidal E, de Cid R, Alcalde C, Tarrats A, Piñol M, Garcia F, Chamorro AM, Revollo B, Videla S, Parés D, Corral J, Tural C, Sirera G, Esté JA, Ballana E, Riveira-Muñoz E. ADAR1 function affects HPV replication and is associated to recurrent human papillomavirus-induced dysplasia in HIV coinfected individuals. Sci Rep. 2019 Dec 27;9(1):19848. DOI: 10.1038/s41598-019-56422-x.
Blay N, Casas E, Galván-Femenía I, Graffelman J, de Cid R, Vavouri T. Assessment of kinship detection using RNA-seq data. Nucleic Acids Res. 2019 Dec 2;47(21):e136. DOI: 10.1093/nar/gkz776.
Graffelman J, Galván Femenía I, de Cid R, Barceló Vidal C. A Log-Ratio Biplot Approach for Exploring Genetic Relatedness Based on Identity by State. Front Genet. 2019 Apr 24;10:341. DOI: 10.3389/fgene.2019.00341.
Valdés MG, Galván-Femenía I, Ripoll VR, Duran X, Yokota J, Gavaldà R, Rafael-Palou X, de Cid R. Pipeline design to identify key features and classify the chemotherapy response on lung cancer patients using large-scale genetic data. BMC Syst Biol. 2018 Nov 20;12(Suppl 5):97. DOI: 10.1186/s12918-018-0615-5.
Amell A, Roso-Llorach A, Palomero L, Cuadras D, Galván-Femenía I, Serra-Musach J, Comellas F, de Cid R, Pujana MA, Violán C. Disease networks identify specific conditions and pleiotropy influencing multimorbidity in the general population. Sci Rep. 2018 Oct 29;8(1):15970. DOI: 10.1038/s41598-018-34361-3.
Galván-Femenía I, Guindo M, Duran X, Calabuig-Fariñas S, Mercader JM, Ramirez JL, Rosell R, Torrents D, Carreras A, Kohno T, Jantus-Lewintre E, Camps C, Perucho M, Sumoy L, Yokota J, de Cid R. Genomic profiling in advanced stage non-small-cell lung cancer patients with platinum-based chemotherapy identifies germline variants with prognostic value in SMYD2. Cancer Treat Res Commun. 2018;15:21-31. DOI: 10.1016/j.ctarc.2018.02.003.
Galván-Femenía I, Obón-Santacana M, Piñeyro D, Guindo-Martinez M, Duran X, Carreras A, Pluvinet R, Velasco J, Ramos L, Aussó S, Mercader JM, Puig L, Perucho M, Torrents D, Moreno V, Sumoy L, de Cid R. Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. J Med Genet. 2018 Nov;55(11):765-778. DOI: 10.1136/jmedgenet-2018-105437.
Pujantell M, Franco S, Galván-Femenía I, Badia R, Castellví M, Garcia-Vidal E, Clotet B, de Cid R, Tural C, Martínez MA, Riveira-Muñoz E, Esté JA, Ballana E. ADAR1 affects HCV infection by modulating innate immune response. Antiviral Res. 2018 Aug;156:116-127. DOI: 10.1016/j.antiviral.2018.05.012.
Additional information
Collaborative networks
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COVICAT: COVICAT is a collaborative, population-based initiative co-led with ISGlobal, launched in early 2020 to assess the impact of the COVID-19 pandemic on population health in Catalonia. It leverages the GCAT cohort infrastructure and integrates detailed data on infection, immunity, mental health, and socio-economic changes, with follow-ups in 2021 and 2023. GCAT plays a pivotal role by providing genomic and longitudinal clinical data to COVICAT, enabling molecular epidemiology studies of COVID-19. This subcohort enhances the ability to evaluate the long-term effects of the pandemic, particularly on mental health, quality of life, and sex-oriented perspectives
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EXPANSE: EXPANSE is a large EU-funded project focused on advancing exposome research by integrating environmental, lifestyle, and omics data to study urban health impacts across Europe. GCAT contributes by providing environmental exposure data linked to individual health profiles and by participating in the Urban Labs Barcelona network, collaborating with five other European cities. This facilitates high-resolution modeling of how factors like air pollution, urban design, green space access, and noise influence cardiometabolic and respiratory health outcomes.
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ENDVOC: ENDVOC (Ending COVID-19 Variants of Concern) is a global EU-funded initiative dedicated to tracking, characterizing, and responding to SARS-CoV-2 variants. The project integrates genomic surveillance, epidemiology, and clinical data from populations worldwide. Through its involvement in ENDVOC, GCAT provides valuable population-based data and variant monitoring capabilities. This collaboration enhances the detection of emerging SARS-CoV-2 mutations and strengthens the assessment of long-term consequences of COVID-19 variants across diverse demographic groups, integrating insights from COVICAT.
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ELIXIR: ELIXIR is a European infrastructure that connects national bioinformatics resources to support the storage, sharing, and analysis of large-scale biomedical data. The platform focuses on data interoperability, standardization, and ensuring long-term sustainability. As part of ELIXIR-Spain, GCAT contributes by harmonizing its data with the FAIR (Findable, Accessible, Interoperable, and Reusable) principles. GCAT supports interoperability through tools such as MICA and DataSHIELD, enabling secure access and federated analysis, in line with ELIXIR's goal of facilitating responsible data sharing across international borders.
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CORDELIA: CORDELIA aims to advance understanding of cardiovascular diseases by studying the impact of lifestyle, genetic, molecular, and environmental factors. Its goal is to identify effective strategies for predicting and preventing risks, ultimately reducing the societal burden of these diseases through tailored prevention and treatment. CORDELIA also focuses on training new researchers in this field. GCAT joined CORDELIA in 2024, contributing its 20,000-participant cohort with rich, homogeneous data. This collaboration strengthens CORDELIA's research, supporting high-quality, multiparametric studies. The network also enhances European research, driving innovative cardiovascular solutions in partnership with pharma, tech, and industry.
Tools
ENDVOC's Fourth General Assembly in London Shows Great Progress
Doctoral theses
Title: Genetic determinants of disease trajectories and multimorbid clusters in the adulthood. A Population based cohort analysis
Author: Natalia Blay Magriña
Supervisor: Rafael de Cid
University: Universitat de Barcelona
Date of defence: end of 2025
Outreach
EATRIS Workshop on Patient Engagement - 28 October 2024
GCAT actively participated in the workshop organized by EATRIS and IGTP, forming part of the panel on Community Engagement. Experience was shared in population cohorts and citizen participation strategies in biomedical research.
World Diabetes Day – Special interview
On the occasion of World Diabetes Day, an interview was published with three experts affiliated with GCAT specialising in type 2 diabetes. The value of the cohort in better understanding the genomic and population factors of this complex disease was highlighted.
6th Celebration of the International Day of Women and Girls in Science
GCAT participated in various initiatives to raise the visibility of women in research, such as the Women and Leadership in Science forum, collaborating in the organisation of events and activities at local and European levels. This effort reinforces the commitment to equality and scientific diversity.
Mobile World Congress (MWC) 2025 - Forum Arena, 5 March 2025
GCAT had an institutional presence at MWC 2025 within the framework of digital health and the secondary use of data. It participated in sessions focused on data interoperability and the development of digital cohorts, highlighting its technological and collaborative contributions in the biomedical field.
News
A new GCAT study improves the population representativeness of the cohort to advance translational research in public health
IGTP’s strategic project GCAT|Genomes for Life has published a study in the journal Scientific Reports proposing a method to correct selection biases in population-based cohorts. The study represents a significant step forward in improving the reliability of data derived from such studies for public health research and precision medicine.
FOXP4 gene identified in the first large-scale genetic study on Long COVID with participation of the GCAT
New insights into the complexities of Long COVID have been brought to light, thanks to an international collaborative effort with the participation of researchers from GCAT|Genomes for life, a strategic project of IGTP. A study published today in Nature Genetics used the vast data from the COVID-19 Host Genetics Initiative to perform the first study examining the entire genetic code specifically focused on Long COVID.
Contact
Rafael de Cid
930330542 (6200)
More links
GCAT website · List of projects · Follow @GCATbiobankX on X/Twitter · Follow @GCAT - Genomes for life on LinkedIn · Follow Rafael de Cid on LinkedIn