
Principales líneas de investigación en las que participa activa'tt
Identificación de las bases genéticas de la trombosis.
- Proyecto GAIT (Análisis Genético de la Trombosis inexplicada)
- Proyecto RETROVE (Riesgo de Trombosis Venosa)
Trombosis en pacientes oncológicos
- Proyecto MIRTO (Modelización del Riesgo de Trombosis en pacientes oncológicos)
- Proyecto ONCOTHROMB (Oncología y Trombosis)
Identificación de las bases genéticas de las varices
- Proyecto GAV (Análisis Genético de las Varius)
- Identificación de las Bases Genéticas de los Aneurismos Abdominales de la Aorta
- Proyecto TAGA (TripleA Genetic Analysis)
Publicaciones científicas como resultado de los proyectos:
HSP-CAR30 WITH A HIGH PROPORTION OF LESS-DIFFERENTIATED T CELLS PROMOTES DURABLE RESPONSES IN REFRACTORY CD30+ LYMPHOMA. Caballero Gonzalez AC, Ujaldón-Miró C, Pujol-Fernández P, Montserrat-Torres R, Guardiola-Perello M, Escudero-López E, Garcia-Cadenas I, Esquirol A, Martino R, Jara-Bustamante P, Ezquerra Condeminas P, Soria JM, Iranzo Ribera E, Moreno-Martinez ME, Riba M, Sierra J, Alvarez-Fernández C, Escribà-Garcia L, Briones J. Blood. 2025
Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity. Cabrera-Alarcon JL, Cruz R, Rosa-Moreno M, Latorre-Pellicer A, de Almeida SD; Scourge Cohort Group (Abellan J … Soria JM … Carracedo A); Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Sánchez-Cabo F, Carracedo Á, Enriquez JA. Commun Biol,2025.
Inflammatory biomarkers and psychological variables to assess quality of life in patients with inflammatory bowel disease: a cross-sectional study. González-Moret R, Cebolla-Martí A, Almodóvar-Fernández I, Navarrete J, García-Esparza Á, Soria JM, Lisón JF. Ann Med,2024.
- Increased Platelet Adhesiveness in Patients with Venous Thromboembolic Disease. Martinez-Sanchez J, Torramade-Moix S, Moreno-Castaño AB, Llobet D, Jerez-Dolz D, Sanchez P, Carrasco M, Mojal S, Moret C, Camacho M, Soria JM, Palomo M, Martin-Fernandez L, Vidal F, Escolar G, Diaz-Ricart M, Souto JC. TH Open, 2024.
- Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles. Huffman JE, Nicholas J, Hahn J, Heath AS, Raffield LM, Yanek LR, Brody JA, Thibord F, Almasy L, Bartz TM, Bielak LF, Bowler RP, Carrasquilla GD, Chasman DI, Chen MH, Emmert DB, Ghanbari M, Haessler J, Hottenga JJ, Kleber ME, Le NQ, Lee J, Lewis JP, Li-Gao R, Luan J, Malmberg AL, Mangino M, Marioni R, Martinez-Perez A, Pankratz N, Polasek O, Richmond A, Rodriguez BAT, Rotter JI, Steri M, Suchon P, Trompet S, Weiss S, Zare M, Auer PL, Cho M, Christofidou P, Davies G, de Geus EJ, Deleuze JF, Delgado GE, Ekunwe L, Faraday N, Gogele M, Greinacher A, Gao H, Howard TE, Joshi PK, Kilpeläinen TO, Lahti J, Linneberg A, Naitza S, Noordam R, Vergés FP, Rich SS, Rosendaal FR, Rudan I, Ryan KA, Souto JCC, van Rooij FJA, Wang H, Zhao W, Becker L, Beswick A, Brown MR, Cade B, Campbell H, Cho K, Crapo J, Curran J, de Maat MPM, Doyle MF, Elliott P, Floyd JS, Fuchsberger C, Grarup N, Guo X, Harris S, Hou L, Kolcic I, Kooperberg C, Menni C, Nauck M, O’Connell JR, Orru V, Psaty BM, Räikkönen K, Smith JA, Soria JM, Stott D, van Hylckama Vlieg A, Watkins H, Willemsen G, Wilson PW, Ben-Shlomo Y, Blangero J, Boomsma D, Cox SR, Dehghan A, Eriksson JG, Fiorillo E, Fornage M, Hansen T, Hayward C, Ikram MA, Jukema JW, Kardia S, Lange L, Maerz W, Mathias R, Mitchell BD, Mook-Kanamori DO, Morange PE, Pedersen O, Pramstaller PP, Redline S, Reiner AP, Ridker PM, Silverman EK, Spector TD, Volker U, Wareham N, Wilson J, Yao J, Tregouet DA, Johnson AD, Wolberg AS, de Vries PS, Sabater-Lleal M, Morrison A, Smith NL. Blood, 2024.
- Genome-Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity. Gendre B, Martinez-Perez A, Kleber ME, van Hylckama Vlieg A, Boland A, Olaso R, Germain M, Munsch G, Moissl AP, Suchon P, Souto JC, Soria JM, Deleuze JF, März W, Rosendaal FR, Sabater-Lleal M, Morange PE, Trégouët DA; CHARGE Hemostasis Working Group. Journal of the American Heart Association, 2024.
- Novel risk loci for COVID-19 hospitalization among admixed American populations. Diz-de Almeida S, Cruz R, Luchessi AD, Lorenzo-Salazar JM, de Heredia ML, Quintela I, González-Montelongo R, Nogueira Silbiger V, Porras MS, Tenorio Castaño JA, Nevado J, Aguado JM, Aguilar C, Aguilera-Albesa S, Almadana V, Almoguera B, Alvarez N, Andreu-Bernabeu Á, Arana-Arri E, Arango C, Arranz MJ, Artiga MJ, Baptista-Rosas RC, Barreda-Sánchez M, Belhassen-Garcia M, Bezerra JF, Bezerra MAC, Boix-Palop L, Brion M, Brugada R, Bustos M, Calderón EJ, Carbonell C, Castano L, Castelao JE, Conde-Vicente R, Cordero-Lorenzana ML, Cortes-Sanchez JL, Corton M, Darnaude MT, De Martino-Rodríguez A, Del Campo-Pérez V, de Bustamante AD, Domínguez-Garrido E, Eirós R, Fariñas MC, Fernandez-Nestosa MJ, Fernández-Robelo U, Fernández-Rodríguez A, Fernández-Villa T, Gago-Dominguez M, Gil-Fournier B, Gómez-Arrue J, Álvarez BG, Bernaldo de Quirós FG, González-Neira A, González-Peñas J, Gutiérrez-Bautista JF, Herrero MJ, Herrero-Gonzalez A, Jimenez-Sousa MA, Lattig MC, Borja AL, Lopez-Rodriguez R, Mancebo E, Martín-López C, Martín V, Martinez-Nieto O, Martinez-Lopez I, Martinez-Resendez MF, Martinez-Perez A, Mazzeu JF, Macías EM, Minguez P, Cuerda VM, Oliveira SF, Ortega-Paino E, Parellada M, Paz-Artal E, Santos NPC, Pérez-Matute P, Perez P, Pérez-Tomás ME, Perucho T, Pinsach-Abuin M, Pita G, Pompa-Mera EN, Porras-Hurtado GL, Pujol A, León SR, Resino S, Fernandes MR, Rodríguez-Ruiz E, Rodriguez-Artalejo F, Rodriguez-Garcia JA, Ruiz-Cabello F, Ruiz-Hornillos J, Ryan P, Soria JM, Souto JC, Tamayo E, Tamayo-Velasco A, Taracido-Fernandez JC, Teper A, Torres-Tobar L, Urioste M, Valencia-Ramos J, Yáñez Z, Zarate R, de Rojas I, Ruiz A, Sánchez P, Real LM; SCOURGE Cohort Group; Guillen-Navarro E, Ayuso C, Parra E, Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Carracedo Á. eLife, 2024.
- A genetic association study of circulating coagulation Factor VIII and von Willebrand factor levels. de Vries PS, Reventun P, Brown MR, Heath AS, Huffman JE, Le NQ, Bebo A, Brody JA, Temprano-Sagrera G, Raffield LM, Ozel AB, Thibord F, Jain D, Lewis JP, Rodriguez BAT, Pankratz N, Taylor KD, Polasek O, Chen MH, Yanek LR, Carrasquilla GD, Marioni RE, Kleber ME, Trégouët DA, Yao J, Li-Gao R, Joshi PK, Trompet S, Martinez-Perez A, Ghanbari M, Howard TE, Reiner AP, Arvanitis M, Ryan KA, Bartz TM, Rudan I, Faraday N, Linneberg A, Ekunwe L, Davies G, Delgado GE, Suchon P, Guo X, Rosendaal FR, Klaric L, Noordam R, van Rooij F, Curran JE, Wheeler MM, Osburn WO, O’Connell JR, Boerwinkle E, Beswick A, Psaty BM, Kolcic I, Souto JC, Becker LC, Hansen T, Doyle MF, Harris SE, Moissl AP, Deleuze JF, Rich SS, van Hylckama Vlieg A, Campbell H, Stott DJ, Soria JM, de Maat MPM, Almasy L, Brody LC, Auer PL, Mitchell BD, Ben-Shlomo Y, Fornage M, Hayward C, Mathias RA, Kilpeläinen TO, Lange LA, Cox SR, März W, Morange PE, Rotter JI, Mook-Kanamori DO, Wilson JF, van der Harst P, Jukema JW, Ikram MA, Blangero J, Kooperberg C, Desch KC, Johnson AD, Sabater-Lleal M, Lowenstein CJ, Smith NL, Morrison AC. Blood, 2024.
- Unraveling athletic performance: Transcriptomics and external load monitoring in handball competition.
Ezquerra Condeminas P, Mallol M, Font R, Tremps V, Gutiérrez JA, Rodas G, Perera Lluna A, Soria JM. PLoS One, 2024.
- Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. Pérez-Jurado LA, Cáceres A, Balagué-Dobón L, Esko T, López de Heredia M, Quintela I, Cruz R, Lapunzina P, Carracedo Á; SCOURGE Cohort Group (Abellan J … Soria JM … Rojas-Martinez A); González JR. Communications Biology, 2024.
Cost-effectiveness of apixaban and rivaroxaban in thromboprophylaxis of cancer patients treated with chemotherapy in Spain. Muñoz AJ, Ortega L, Gutiérrez A, Gallardo E, Rubio-Rodríguez D, Rubio-Terrés C, Morón B, García-Alfonso P, Soria JM. J Med Econ. 2023
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19. Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, Flores C, Carracedo Á, Díaz-Peña R; Scourge Cohort Group (Abellan J … Soria JM … Carracedo A). HLA, 2023.
Assessing VTE Risk in Cancer Patients Using Deep Learning Synthetic Data Generation and Domain Adaptation Techniques. Bech S, Lobato B, Pujol O, Soria JM, Muñoz A. Artificial Intelligence Research and Development, 2023.
- Influence of ABO Locus on PFA-100 Collagen-ADP Closure Time Is Not Totally Dependiente on the Von Willebrand Factor. Resultados of en GWAS on GAIT-2 Project Phenotypes. Pujol-Moix N, Martinez-Perez A, Sabater-Lleal M, Llobet D, Vilalta N, Hamsten A, Souto JC, Soria JM. International Journal of Molecular Sciences. 2019 junio 30; 20 (13).
Reply to F.I. Mulder et al. J Clin Oncol. Muñoz A, Salas E, Soria JM. Epub 2023
- Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. Pérez-Jurado LA, Cáceres A, Balagué-Dobón L, Esko T, López de Heredia M, Quintela I, Cruz R, Lapunzina P, Carracedo Á; SCOURGE Cohort Group (Abellan J … Soria JM … Rojas-Martinez A); González JR. Communications Biology, 2024.
A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology. Paul de Vries PS, Sabater-Lleal M, Huffman JE, Marten J, Song C, Pankratz N, Bartz TM, de Haan HG, Delgado GE, Eicher JD, Martinez-Perez A, Ward-Caviness CK, Brody JA, Chen MH, de Maat MPM, Frånberg M, Gill D, Kleber ME, Rivadeneira F, Sòria JM, Tang W, Tofler GH, Uitterlinden AG, van Hylckama Vlieg A, Seshadri S, Boerwinkle I, Davies NM, Giese AK, Ikram MK, Kittner SJ, McKnight B, Psaty BM, Reiner AP, Sargurupremraj M, Taylor KD, Fornage M, Hamsten A, März W, Rosendaal FR, Souto JC, Dehghan A, Johnson AD, Morrison AC, O’Donnell CJ, Smith NL. Blood. 2019 Jan 14
- Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. Sabater-Lleal, M., Huffman, J. E., de Vries, P. S., Marten, J., Mastrangelo, M. A., Song, C., Pankratz, N., Ward-Caviness, C. K., Yanek, L. R., Trompet, S., Delgado, G. E., Guo, X., Bartz, T. M., Martinez-Perez, A., Germain, M., de Haan, H. G., Ozel, A. B., Polasek, O., Smith, A. V., Eicher, J. D., … Smith, N. L. (2019). Circulation, 139(5), 620–635.
- Enhanced endoplasmic reticulum and mitochondrial stress in abdominal Aortic Aneurysm. Navas-Madroñal, M., Rodriguez, C., Kassan, M., Fité, J., Escudero, J. R., Cañes, L., Martínez-González, J., Camacho, M., & Galán, M. Clinical science (London, England : 1979), 133(13), 1421–1438.
- Short Closure Time Values in PFA-100® are Related to Venous Thrombotic Risk. Results from the RETROVE Study. Vázquez-Santiago, M., Vilalta, N., Cuevas, B., Murillo, J., Llobet, D., Macho, R., Pujol-Moix, N., Carrasco, M., Mateo, J., Fontcuberta, J., Soria, J. M., & Souto, J. C. Thrombosis research, 169, 57–63.
- Multivariable clinical-genetic risk model for predicting venous thromboembolic events in patients with cancer. Muñoz Martín, A. J., Ortega, I., Font, C., Pachón, V., Castellón, V., Martínez-Marín, V., Salgado, M., Martínez, E., Calzas, J., Rupérez, A., Souto, J. C., Martín, M., Salas, E., & Soria, J. M. British journal of cancer, 118(8), 1056–1061
- Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels es an intermediate Phenotype of Thrombosis. Martin-Fernandez L, Gavidia-Bovadilla G, Corrals I, Brunel H, Ramírez L, López S, Souto JC, Vidal F, Sòria JM. PloS one, 12(4), e0176301.
- Genome-wide association study with additional genetic and post transcriptional analyses reveals novell regulators of plasma factor XI levels. Sennblad, B., Basu, S., Mazur, J., Suchon, P., Martinez-Perez, A., van Hylckama Vlieg, A., Truong, V., Li, Y., Gådin, J. R., Tang, W., Grossman, V., de Haan, H. G., Handin, N., Silveira, A., Souto, J. C., Franco-Cereceda, A., Morange, P. E., Gagnon, F., Soria, J. M., Eriksson, P., … Sabater-Lleal, M. (2017). Human molecular genetics, 26(3), 637–649.
- Circulating CCL20 es a New Biomarker of Abdominal Aortic Aneurysm. Soto, B., Gallastegi-Mozos, T., Rodríguez, C., Martínez-González, J., Escudero, J. R., Vila, L., & Camacho, M. (2017). Scientific reports, 7(1), 17331.
- The Central Role of KNG1 Gene es a Genetic Determinant of Coagulation Pathway-Related Traits: una exploració Metaphenotypes. Brunel, H., Massanet, R., Martinez-Perez, A., Ziyatdinov, A., Martin-Fernandez, L., Souto, J. C., Perera, A., & Soria, J. M. (2016). Exploring Metaphenotypes. PloS one, 11(12), e0167187.
- The unravelling of the Genetic Architecture of plasminogen Deficiency and its Relation to Thrombotic Disease. Martin-Fernandez, L., Marco, P., Corrales, I., Pérez, R., Ramírez, L., López, S., Vidal, F., & Soria, J. M. (2016). Scientific reports, 6, 39255.
- Platelet-Derived Growth Factor Beta polypeptide (PDGFB), a new candidate plasma Biomarker for venous thromboembolism: results from the VEREMA affinity Proteomics study. Bruzelius, M., Iglesias, M. J., Hong, M. G., Sanchez-Rivera, L., Gyorgy, B., Souto, J. C., Frånberg, M., Fredolini, C., Strawbridge, R. J., Holmström, M., Hamsten, A., Uhlén, M., Silveira, A., Soria, J. M., Smadja, D. M., Butler, L. M., Schwenk, J. M., Morange, P. E., Trégouët, D. A., & Odeberg, J. (2016). Blood, 128(23), e59–e66.
- Genome-wide association analysis of self-reported events in 6,135 individuals and 252,827 controls identifies 8 loci associated with Thrombosis. Hinds, D. A., Buil, A., Ziemek, D., Martinez-Perez, A., Malik, R., Folkersen, L., Germain, M., Mälarstig, A., Brown, A., Soria, J. M., Dichgans, M., Bing, N., Franco-Cereceda, A., Souto, J. C., Dermitzakis, E. T., Hamsten, A., Worrall, B. B., Tung, J. Y., METASTROKE Consortium, INVENT Consortium, & Sabater-Lleal, M. (2016). Human molecular genetics, 25(9), 1867–1874.
- Genetic Determinants of Thrombin Generation and Their Relation to Venous Thrombosis: Results from the GAIT-2 Project. Martin-Fernandez, L., Ziyatdinov, A., Carrasco, M., Millon, J. A., Martinez-Perez, A., Vilalta, N., Brunel, H., Font, M., Hamsten, A., Souto, J. C., & Soria, J. M. (2016). PloS one, 11(1), e0146922.
- The genetics of Thrombosis in cancer (Spanish). Soria, J. M., & López, S. (2015). Medicina clinica, 144 Suppl 1, 26–30.
- Platelet count and plateletcrit are associated with an Increased risk of venous Thrombosis in Females. Results from the RETROVE study. Vázquez-Santiago, M., Vilalta, N., Ziyatdinov, A., Cuevas, B., Macho, R., Pujol-Moix, N., Carrasco, M., Mateo, J., Fontcuberta, J., Soria, J. M., & Souto, J. C. (2017). Thrombosis research, 157, 162–164.