Sant Pau - Institut de Recerca

Summary

The Group of Genomics of Complex Diseases of the Sant Pau Hospital Research Institute is an interdisciplinary translational research team, with expertise in several scientific domains: Omics Big Data, Molecular Biology, Statistics and Bioinformatics.To complement and enhance our current research lines on Genomics of Thrombosis and Sports Medicine, we have recently integrated the Vascular Biology Group (LABVI) together with the Vascular Surgery and Angiology clinical team of Sant Pau Hospital. This means new capabilities to the group (expertise in cellular and tissue biology, biochemistry of inflammation mediators and functional analysis), creating a unique Vascular Research line with more competitive orientation and big scientific potential. The resulting group constitutes a consolidated basic and clinical team with translational and groundbreaking research lines, with the aim of transfer all the new knowledge that will be generated in Omics and molecular basic research to the clinical practice, working in the different areas of research with special focus on Personalized and Precision Medicine.

Main lines of Research

Angiology and Vascular Biology.

TAGA Project: Genomic basis of Abdominal Aortic Aneurysm.

Venous Thrombosis and Thrombosis and cancer

GAIT Project: Genetic Analysis of Idiopathic Thrombophilia
RETROVE Project: Risk of Venous Thromboembolic Disease.
OncoThromb Project: New biomarkers related with Thrombosis and Cancer.
AIRTOP and MIRTO Projects: Assesment of the Individual Risk of Thrombosis in Oncology Patients.

Genomics in Sport Medicine

SUMMIT Project (Health in sport and its limits): Marathons and Ultra-trail races. Biological, genetic and clinical impact.

SHERPA_Everest’2017 Project. Exposition to extreme environmental hypoxia and its effect on the inflammatory and cardiopulmonar response: Biological, genetic and clinical impact.
Xtreme-Genetics K2 project. Expedition to K2 peak. Biological, genetic and clinical impact.

Transversal Research Areas

Bioinformatics and Epigenetics.
Translational Research and Personalized Medicine

Scientific Challenges

Analysis of Omics data (Genomics, transcriptomics, epigenomics) in the field of complex diseases with translational approach in cooperation with clinical groups.
Identify new biomarkers (genetic, epigenetic and/or plasmatic) that determine the susceptibility to complex diseases.
Identify new mechanisms involved in the development and progression of complex diseases.
Development of predictive algorithms that integrate the genetic, biological and clinical information of the patients (Personalized Medicine).

Scientific Collaborations

With other IIB Sant Pau Groups and Sant Pau Hospital

Thrombosis and Haemostasis, Dr. JC Souto: GAIT, MIRTO, RETROVE Projects.
Clinical Hematology, Dr. J Sierra: MIRTO Project.
Neurology, Dr. J. Marti: MIRTO Project. Elena Jimenez: Lipoproteic biomarkers. ICTUS.
Otorhinolaryngology. Dr. M Quer and Dr. X Leon. Prediction of response to head and neck cancer.
Regulatory Mechanisms of Cardiovascular Remodeling. Dra. C. Rodriguez and Dra. M Galán.
Participation en CIBERCV (CIBER of cardiovascular diseases). Dr. J González.
General and Digestive Surgery. Dra. C Balaguer
Clinical Pharmacology. Dra. MA Mangues and Dra. M Gomis. AIRTOP Project.
Neumology Service, Dr. O Sibila: SUMMIT, SHERPA Projects.

External

Clinical Oncology Department, Hospital Gregorio Marañón, Madrid,Dr. A Muñoz: ONCOTHROMB, AIRTOP Projects.
Clinical Department of Hematology and Hemostasis. University of Wien, Austria. Dra. I Pabinger. ONCOTHROMB, MIRTO Projects.
Dr. J Schwenk. SciLifeLab, Sweeden: GAIT Project
Department of Genetics, University of Genève, Switzerland, Dr. M Dermitzakis and Dr. A Viñuela: GAIT Project.
Institute of Biological Psychiatry, Sankt Hans Hospital. Roskilde, Denmark, Dr. A Buil: Bioinformatics of Complex diseases, GAIT Project.
Laboratory Haematology, Hospital Timone Marseille, France, Dr. P Morange: GAIT, VEREMA Projects.
INSERM UMR_S1219 – Bordeaux Public Health Center. Bordeaux, France. Dr. DA Tregouet: GAIT, VEREMA Projects.
Haematology Department, Karolinska Hospital, Sweden, Dr. J Odeberg: VEREMA Project.
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid. Dr. JM Redondo.
Hospital Clínic de Barcelona. Otorhinolaryngology Service. Prediction of response to head and neck cancer. Dr. FX Avilés.
Hospital Vall d’Hebron, Barcelona. Vascular Surgery Service. Dr. S Bellmunt.
Bac de Sang i Teixits (BST). Dr. F Vidal.
Centre de Recerca en Enginyeria Biomèdica, Universitat Politècnica de Catalunya, Barcelona, Dr. A Perera: SUMMIT Project.
CAR, Centre d’Alt Rendiment Sportiu, Sant Cugat. Dr. F Drobnic: Sport Medicine Projects.
CHARGE, International network consortium. Hemostatic factors studies.
GIANT, International network consortium. Anthropometric factors studies.
GLGC, International network consortium. Lipidic factors research.

With Biopharma companies

GenIncode. Development of Genetic Diagnostics in Thrombosis.
Leo-Pharma. Prediction of Thrombosis Risk in cancer patients.

Group coordination

SORIA FERNANDEZ, JOSE MANUEL IR
jsoria@santpau.cat

Members

Aloy Ortiz, Carme ENTITAT EXTERNA
Camacho Perez De Madrid, Maria Mercedes IR
De la Rosa Estadella, Mireia IR
Dilme Muñoz, Jaume Felix FGS
Escudero Rodriguez, Jose Roman FGS
Fite Matamoros, Joan FGS
Garcia Garcia, Irina IR
Lloret Cano, Maria Dolores ENTITAT EXTERNA
Lobato Delgado, Barbara IR
Martinez Perez, Angel IR
Romero Carro, Josep Maria FGS
Sabater Lleal, Maria IR
Sanchez Garcia, Laia FGS
Soto Carricas, Begoña Dolores FGS
Temprano Sagrera, Gerard IR
Uribezubia Azpitarte, Ager IR
Vega Mendez, Anton IR

Publications 2022

(JIF 2022)

Bague S, Leon X, Terra X, Lejeune M, Camacho M, Aviles FX. Prognostic capacity of the transcriptional expression of lactate dehydrogenase A in patients with head and neck squamous cell carcinoma. HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK. 2022; 44(11). DOI:10.1002/hed.27161. PMID:36207788. IF:2,9 (Q1/2D). Document type: Article.
Camacho M, Leon X, Pujol A, Montezuma L, Quer M, Garcia J. Prognostic value of transcriptional expression of fibronectin type III domain-containing 4 (FNDC4) in head and neck carcinoma patients treated with chemoradiotherapy. Clinical & Translational Oncology. 2022; 24(11). DOI:10.1007/s12094-022-02870-3. PMID:35752749. IF:3,4 (Q3/6D). Document type: Article.
Canyelles M, Plaza M, Rotllan N, Llobet D, Julve J, Mojal S, Diaz M, Soria JM, Escola JC, Tondo M, Blanco F, Souto JC. TMAO and Gut Microbial-Derived Metabolites TML and gamma BB Are Not Associated with Thrombotic Risk in Patients with Venous Thromboembolism. Journal of Clinical Medicine. 2022; 11(5):1425. DOI:10.3390/jcm11051425. PMID:35268516. IF:3,9 (Q2/4D). Document type: Article.
Corrochano M, Acosta R, Mojal S, Miqueleiz S, Rodriguez D, Quijada MA, Fraga E, Castillo M, Amaro K, Albiol N, Soria JM, Antonijoan RM, Souto JC. Impact of pre-admission antithrombotic therapy on disease severity and mortality in patients hospitalized for COVID-19. JOURNAL OF THROMBOSIS AND THROMBOLYSIS. 2022; 53(1). DOI:10.1007/s11239-021-02507-2. PMID:34138399. IF:4 (Q2/4D). Document type: Article.
Cruz R, Díaz S, López de Heredia M, Quintela I, Ceballos FC, Lorenzo GM, Gonzalez R, Gago M, Porras MS, Castano J, Nevado J, Aguado JM, Aguilar C, Aguilera S, Almadana V, Almoguera B, Alvarez N, Andreu A, Arana E, Arango C, Arranz MJ, Artiga MJ, Baptista RC, Barreda M, Belhassen M, Bezerra JF, Bezerra M, Boix L, Brion M, Brugada R, Bustos M, Calderon EJ, et al. [Martínez-Pérez A, Soria JM, Souto JC, Fernández-Cadenas I]. Novel genes and sex differences in COVID-19 severity. HUMAN MOLECULAR GENETICS. 2022; 31(22). DOI:10.1093/hmg/ddac132. PMID:35708486. IF:3,5 (Q2/4D). Document type: Article.
Garcia LS, Munoz JFD. Steerable sheath for cannulation of target visceral vessels in complex endoprosthesis. Angiologia. 2022; 74(5). DOI:10.20960/angiologia.00401. Document type: Article.
Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu K-HH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, et al. [Sabater-Lleal M]. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. GENOME BIOLOGY. 2022; 23(1):268. DOI:10.1186/s13059-022-02837-1. PMID:36575460. IF:12,3 (Q1/1D). Document type: Article.
Leon X, Garcia J, Pujol A, de Juan J, Vasquez R, Quer M, Camacho M. Relationship between the transcriptional expression of PIM1 and local control in patients with head and neck squamous cell carcinomas treated with radiotherapy. EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. 2022; 279(7). DOI:10.1007/s00405-021-07223-4. PMID:34993612. IF:2,6 (Q2/3D). Document type: Article.
Lobato B, Priego B, Sanchez D. Combining Molecular, Imaging, and Clinical Data Analysis for Predicting Cancer Prognosis. Cancers. 2022; 14(13):3215. DOI:10.3390/cancers14133215. PMID:35804988. IF:5,2 (Q2/3D). Document type: Review.
Lopez S, Martinez A, Rodriguez A, Vinuela A, Brown AA, Martin L, Vilalta N, Arus M, Panousis NI, Buil A, Sabater-Lleal M, Souto JC, Dermitzakis ET, Soria JM. Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk. THROMBOSIS AND HAEMOSTASIS. 2022; 122(06). DOI:10.1055/s-0041-1742169. PMID:35272364. IF:6,7 (Q1/2D). Document type: Article.
Marín-García M, Benseny-Cases N, Camacho M, Barnadas-Rodríguez R. Chapter 11: Metallosurfactants as Carbon Monoxide-Releasing Molecules. In: Surinder M, Ravneet K (Eds). Metallosurfactants: From Fundamentals to Catalytic and Biomedical Applications. Wiley, 2022. pp.195-222. DOI:10.1002/9783527831289.ch11. ISBN:9783527348688. Document Type: Book chapter.
Meler C, Aviles FX, Vilaseca I, Terra X, Bragado P, Fuster G, Vintro XL, Camacho M. Semaphorin-3F/Neuropilin-2 Transcriptional Expression as a Predictive Biomarker of Occult Lymph Node Metastases in HNSCC. 2022; 14(9):2259. DOI:10.3390/cancers14092259. PMID:35565388. IF:5,2 (Q2/3D). Document type: Article.
Puig N, Camps P, Camacho M, Aguilera A, Jimenez F, Fernandez A, Marin R, Marti J, Sanchez JL, Jimenez E, Benitez S. Plasma sICAM-1 as a Biomarker of Carotid Plaque Inflammation in Patients with a Recent Ischemic Stroke. Translational Stroke Research. 2022; 13(5). DOI:10.1007/s12975-022-01002-x. PMID:35237947. IF:6,9 (Q1/1D). Document type: Article.
Ramdas S, Judd J, Graham SE, Kanoni S, Wang YX, Surakka I, Wenz B, Clarke SL, Chesi A, Wells A, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KHH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang ZY, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, et al. [Sabater-Lleal M]. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. AMERICAN JOURNAL OF HUMAN GENETICS. 2022; 109(8). DOI:10.1016/j.ajhg.2022.06.012. PMID:35931049. IF:9,8(Q1/1D). Document type: Article.
Soria JM, Mojal S, Martinez A, Acosta FR, López S, Miqueleiz S, Rodriguez D, Quijada MA, Cardenas A, Vidal F, Remacha A, Antonijoan RM, Souto JC. A validated clinical-genetic score for assessing the risk of thrombosis in patients with COVID-19 receiving thromboprophylaxis. HAEMATOLOGICA. 2022; 107(9). DOI:10.3324/haematol.2022.281068. PMID:35545920. IF:10,1 (Q1/2D). Document type: Article.
Stacey D, Chen LY, Stanczyk PJ, Howson JMM, Mason AM, Burgess S, MacDonald S, Langdown J, McKinney H, Downes K, Farahi N, Peters JE, Bas S, Pankowf JS, Tang WH, Pankratz N, Sabater-Lleal M, de Vries PS, Smith NL, Gelinas AD, Schneider DJ, Janjic N, Samani NJ, Ye S, Summers C, Chilvers ER, Danesh J, Paul DS, CHARGE Hemostasis Working GRP. Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus. Nature Communications. 2022; 13(1):1222. DOI:10.1038/s41467-022-28729-3. PMID:35264566. IF:16,6 (Q1/1D). Document type: Article.
Temprano G, Sitlani CM, Bone WP, Martin M, Voight BF, Morrison AC, Damrauer SM, de Vries PS, Smith NL, Sabater-Lleal M. Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations. JOURNAL OF THROMBOSIS AND HAEMOSTASIS. 2022; 20(6). DOI:10.1111/jth.15698. PMID:35285134. IF:10,4 (Q1/1D). Document type: Article.
Thibord F, Klarin D, Brody JA, Chen MH, Levin MG, Chasman DI, Goode EL, Hveem K, Teder M, Martinez A, Aissi D, Daian D, Ito K, Natarajan P, Lutsey PL, Nadkarni GN, de Vries PS, Cuellar G, Wolford BN, Pattee JW, Kooperberg C, Braekkan SK, Li RF, Saut N, Sept C, Germain M, Judy RL, Wiggins KL, Ko D, O’Donnell CJ, Taylor KD, Giulianini F, De Andrade M, Nost TH, et al. [Soria JM, Souto JC, Sabater-Lleal M]. CIRCULATION. 2022; 146(16). DOI:10.1161/CIRCULATIONAHA.122.059675. PMID:36154123. IF:37,8 (Q1/1D). Document type: Article.
Vitiello G, Soto B, Martínez MC, Targarona E. Resection of the aortic bifurcation in the treatment of locally recurrent colorectal cancer. CIRUGIA ESPANOLA. 2022; 100(3). DOI:10.1016/j.ciresp.2020.12.009. PMID:33468362. IF:1,9 (Q3/6D). Document type: Letter.
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang YX, Raghavan S, Miao JK, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin XY, Chen SH, Ferreira T, Highland HH, Ji YJ, Karaderi T, Lin K, Lull K, Malden DE, Medina C, Machado M, Moore A, Rueger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, et al. [Sabater-Lleal M]. A saturated map of common genetic variants associated with human height. NATURE. 2022; 610(7933). DOI:10.1038/s41586-022-05275-y. PMID:36224396. IF:64,8 (Q1/1D). Document type: Article.

Publications 2021

Ahluwalia TS, Prins BP, Abdollahi M, Armstrong NJ, Aslibekyan S, Bain L, Jefferis B, Baumert J, Beekman M, Ben Y, Bis JC, Mitchell BD, de Geus E, Delgado GE, Marek D, Eriksson J, Kajantie E, Kanoni S, Kemp JP, Lu C, Marioni RE, McLachlan S, Milaneschi Y, Nolte IM, Petrelis AM, Porcu E, Sabater M, Naderi E, Seppala I, Shah T, Singhal G, et al., CHARGE Inflammation Working GRP. Genome-wide association study of circulating interleukin 6 levels identifies novel loci. HUMAN MOLECULAR GENETICS. 2021; 30(5). DOI:10.1093/hmg/ddab023. PMID:33517400. IF:5,121.
Aviles-Jurado FX, Munoz C, Meler C, Flores JC, Guma J, Benaiges E, Mora J, Camacho M, Leon X, Vilaseca I, Terra X. Circulating microRNAs modulating glycolysis as non-invasive prognostic biomarkers of HNSCC. EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. 2021; 278(5):1585-1594. DOI: 10.1007/s00405-020-06240-z. PMID: 32737645. IF:3,236.
Bastos M, Ortiz J, Pradillo V, Salas E, Marinez C, Munoz A, Buno I, Diez JL, Soria JM, Izquierdo CP. Incorporating genetic and clinical data into the prediction of thromboembolism risk in patients with lymphoma. Cancer Medicine. 2021; 10(21). DOI:10.1002/cam4.4280. PMID:34598309. IF:4,711.
Bonfill X, Quintana MJ, Escudero JR, Miralles M, Fite J, Mikelarena E, Castejon B, Garnica M, De Valderrama IF, Rodriguez A, Pijoan JI, Bellmunt S. Appropriateness of surgery performed for abdominal aortic aneurysm at tertiary hospitals in Spain. INTERNATIONAL ANGIOLOGY. 2021; 40(4). DOI:10.23736/S0392-9590.21.04654-X. PMID:34060282. IF:2,103.
Canes L, Alonso J, Ballester C, Varona S, Escudero JR, Andres V, Rodriguez C, Martinez J. Targeting Tyrosine Hydroxylase for Abdominal Aortic Aneurysm Impact on Inflammation, Oxidative Stress, and Vascular Remodeling. HYPERTENSION. 2021; 78(3). DOI:10.1161/HYPERTENSIONAHA.121.17517. PMID:34304581. IF:9,897.
Ellervik C, Mora S, Kus A, Asvold B, Marouli E, Deloukas P, Sterenborg RBTM, Teumer A, Burgess S, Sabater M, Huffman J, Johnson AD, Tregouet DA, Smith NL, Medici M, DeVries PS, Chasman DI, Kjaergaard AD. Effects of Thyroid Function on Hemostasis, Coagulation, and Fibrinolysis: A Mendelian Randomization Study. THYROID. 2021; 31(9). DOI:10.1089/thy.2021.0055. PMID:34210154. IF:6,506.
Fite J, Gayarre R, Puig T, Zamora S, Escudero JR, Roca JS, Bellmunt S. Feasibility and Efficiency Study of a Population-Based Abdominal Aortic Aneurysm Screening Program in Men and Women in Spain. ANNALS OF VASCULAR SURGERY. 2021; 73. DOI:10.1016/j.avsg.2020.11.042. PMID:33387620. IF:1,607.
Fite J, Gimenez E, Soto B, Artigas V, Escudero JR, Bellmunt S, Espallargues M. Systematic review on abdominal aortic aneurysm screening cost-efficiency and methodological quality assessment. INTERNATIONAL ANGIOLOGY. 2021; 40(1). DOI:10.23736/S0392-9590.20.04547-2. PMID:33086780. IF:2,103.
Goncalves G, Gil D, Tello C, Tenezaca X, Marrero C, Puig T, Gayarre R, Fite J, Bellmunt S. Prevalence of Peripheral Arterial Disease and Associated Vascular Risk Factors in 65-Years-Old People of Northern Barcelona. Journal of Clinical Medicine. 2021; 10(19):4467. DOI:10.3390/jcm10194467. PMID:34640483. IF:4,964.
Goumidi L, Thibord F, Wiggins KL, Li RF, Brown MR, Vlieg AV, Souto JC, Soria JM, Ibrahim M, Saut N, Daian D, Olaso R, Amouyel P, Debette S, Boland A, Bailly P, Morrison AC, Mook DO, Deleuze JF, Johnson A, de Vries PS, Sabater M, Chiaroni J, Smith NL, Rosendaal FR, Chasman DI, Tregouet DA, Morange PE. Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation. BLOOD. 2021; 137(17). DOI:10.1182/blood.2020008997. PMID:33512453. IF:25,476.
Graham SE, Clarke SL, Wu KHH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, et al. [Sabater M]. The power of genetic diversity in genome-wide association studies of lipids. NATURE. 2021; 600(7890). DOI:10.1038/s41586-021-04064-3. PMID:34887591. IF:69,504.
Guo YJ, Rist PM, Sabater M, de Vries P, Smith N, Ridker PM, Kurth T, Chasman DI. Association Between Hemostatic Profile and Migraine A Mendelian Randomization Analysis. NEUROLOGY. 2021; 96(20). DOI:10.1212/WNL.0000000000011931. PMID:33795393. IF:11,800.
Leon X, Venegas M, Pujol A, Bulboa C, Llansana A, Casasayas M, Quer M, Camacho M. Predictive value of transcriptional expression of Kruppel-like factor-6 (KLF6) in head and neck carcinoma patients treated with radiotherapy. Clinical & Translational Oncology. 2021; 23(12). DOI:10.1007/s12094-021-02651-4. PMID:34061320. IF:3,340.
Mendez KA, Rodriguez E, Sebastian D, Blanco R, Camacho M, Nan MN, Diarte E, Mato E, Lope S, Roglans N, Laguna JC, Alonso N, Mauricio D, Zorzano A, Villarroya F, Villena JA, Blanco F, Julve J. Nicotinamide Protects Against Diet-Induced Body Weight Gain, Increases Energy Expenditure, and Induces White Adipose Tissue Beiging. MOLECULAR NUTRITION & FOOD RESEARCH. 2021; 65(11):2100111. DOI:10.1002/mnfr.202100111. PMID:33870623. IF:6,575.
Paloschi V, Sabater M, Middelkamp H, Vivas A, Johansson S, van der Meer A, Tenje M, Maegdefessel L. Organ-on-a-chip technology: a novel approach to investigate cardiovascular diseases. CARDIOVASCULAR RESEARCH. 2021; 117(14). DOI:10.1093/cvr/cvab088. PMID:33729461. IF:13,081.
Rotllan N, Camacho M, Tondo M, Diarte E, Canyelles M, Mendez KA, Benitez S, Alonso N, Mauricio D, Escola JC, Blanco F, Julve J. Therapeutic Potential of Emerging NAD plus -Increasing Strategies for Cardiovascular Diseases. Antioxidants. 2021; 10(12):1939. DOI:10.3390/antiox10121939. IF:7,675.
Sanchez D, Nus M, Navas M, Fite J, Perez B, Barros AJ, Soto B, Martinez J, Camacho M, Rodriguez C, Mallat Z, Galan M. Oxidative Stress and Inflammatory Markers in Abdominal Aortic Aneurysm. Antioxidants. 2021; 10(4):602. DOI:10.3390/antiox10040602. PMID:33919749. IF:7,675.
Sanchez L, Fite J, Peypoch O, Moreno J, Jubert Q, Carricas BS, Dilme JF, Escudero JR. Preoperative geriatric assessment, a promising tool to improve outcomes in aortic pathology interventions. INTERNATIONAL ANGIOLOGY. 2021; 40(4). DOI:10.23736/S0392-9590.21.04643-5. PMID:33913311. IF:2,103.
Small AM, Huffman JE, Klarin D, Sabater M, Lynch JA, Assimes TL, Sun YV, Miller D, Freiberg MS, Morrison AC, Rader DJ, Wilson PWF, Cho K, Tsao PS, Chang KM, Smith NL, O’Donnell CJ, de Vries PS, Damrauer SM, Cohorts Heart Aging Res Genomic &, VA Million Veteran P. Mendelian Randomization Analysis of Hemostatic Factors and Their Contribution to Peripheral Artery Disease-Brief Report. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY. 2021; 41(1). DOI:10.1161/ATVBAHA.119.313847. PMID:32847391. IF:10,514.
Thibord F, Song C, Pattee J, Rodriguez B, Chen MH, O’Donnell CJ, Kleber ME, Delgado GE, Guo XQ, Yao J, Taylor KD, Ozel AB, Brody JA, McKnight B, Gyorgy B, Simonsick E, Leonard HL, Carrasquilla GD, Guindo M, Silveira A, Temprano G, Yanek LR, Becker DM, Mathias RA, Becker LC, Raffield LM, Kilpelainen TO, Grarup N, Pedersen O, Hansen T, et al. [Sabater M]. FGL1 as a modulator of plasma D-dimer levels: Exome-wide marker analysis of plasma tPA, PAI-1, and D-dimer. JOURNAL OF THROMBOSIS AND HAEMOSTASIS. 2021; 19(8). DOI:10.1111/jth.15345. PMID:33876560. IF:16,036.
Varona S, Puertas L, Galan M, Orriols M, Canes L, Aguilo S, Camacho M, Sirvent M, Andres V, Martinez J, Rodriguez C. Rolipram Prevents the Formation of Abdominal Aortic Aneurysm (AAA) in Mice: PDE4B as a Target in AAA. Antioxidants. 2021; 10(3):460. DOI:10.3390/antiox10030460. PMID:33809405. IF:7,675.

IIB-Sant-Pau-2020 Report. Genomics

Relevant Publications of the last 5 years

Plasma sICAM-1 as a Biomarker of Carotid Plaque Inflammation in Patients with a Recent Ischemic Stroke. Puig N, Camps-Renom P, Camacho M, Aguilera-Simón A, Jiménez-Altayó F, Fernández-León A, Marín R, Martí-Fàbregas J, Sánchez-Quesada JL, Jiménez-Xarrié E, Benitez S. Transl Stroke Res. 2022 Oct;13(5):745-756. doi: 10.1007/s12975-022-01002-x. Epub 2022 Mar 2. PMID: 35237947. IF:6.8. Q1
Combining Molecular, Imaging, and Clinical Data Analysis for Predicting Cancer Prognosis. Bárbara Lobato-Delgado, Blanca Priego-Torres, Daniel Sanchez-Morillo.Cancers (Basel). 022 Jun 30;14(13):3215. doi: 10.3390/cancers14133215. PMID: 35804988. IF: 6,575. Q1
A saturated map of common genetic variants associated with human height. Yengo L, et al. Nature. 2022 Oct 12. doi: 10.1038/s41586-022-05275-y. Online ahead of print.PMID: 36224396
Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus. Stacey D, Chen L, Stanczyk PJ, Howson JMM, Mason AM, Burgess S, MacDonald S, Langdown J, McKinney H, Downes K, Farahi N, Peters JE, Basu S, Pankow JS, Tang W, Pankratz N, Sabater-Lleal M, de Vries PS, Smith NL; CHARGE Hemostasis Working Group, Gelinas AD, Schneider DJ, Janjic N, Samani NJ, Ye S, Summers C, Chilvers ER, Danesh J, Paul DS. Nat Commun. 2022 Mar 9;13(1):1222. doi: 10.1038/s41467-022-28729-3. PMID: 35264566 IF: 17.694. D1.
Cross-Ancestr Investigation of Venous Thromboembolism Genomic Predictors. Florian Thibord et al. Circulation. 2022 Sep. 26.doi:10.1161/CIRCULATIONAHA.122.059675. Online ahead of print. PMID: 36154123 IF: 39.918. D1
Novel genes and sex differences in COVID-19 severity. Raquel Cruz et al. Hum Mol Genet. 2022 Jun 16;ddac132. doi: 10.1093/hmg/ddac132. PMID: 35708486. Online ahead of print. IF: 5.121, Q1.
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. Ramdas S et al. Am J Hum Genet. 2022 Aug 4;109(8):1366-1387. doi: 10.1016/j.ajhg.2022.06.012. PMID: 35931049. IF: 11.043. D1.
A validated clinical-genetic score for assessing the risk of thrombosis in patients with COVID-19 receiving thromboprophylaxis. Jose Manuel Soria, Sergi Mojal, Angel Martinez-Perez, Francisco Rene Acosta, Sonia Lopez, Sara Miqueleiz, Diana Rodriguez, Maria Angeles Quijada, Antonio Cárdenas, Francisco Vidal, Angel Remacha, Rosa Maria Antonijoan, Juan Carlos Souto. Haematologica. 2022 Sep 1; 107(9):2244-2248. doi: 10.3324/haematol.2022.281068. PMID: 35545920, IF: 11.047. D1.
Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations. Temprano-Sagrera G, Sitlani CM, Bone WP, Martin-Bornez M, Voight BF, Morrison AC, Damrauer SM, de Vries PS, Smith NL, Sabater-Lleal M. J Thromb Haemost. 2022 Jun;20(6):1331-1349. doi: 10.1111/jth.15698. Epub 2022 Mar 29. PMID: 35285134. IF: 16.036. D1.
Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk. Lopez S, Martinez-Perez A, Rodriguez-Rius A, Viñuela A, Brown AA, Martin-Fernandez L, Vilalta N, Arús M, Panousis NI, Buil A, Sabater-Lleal M, Souto JC, Dermitzakis ET, Soria JM. Thromb Haemost. 2022 Mar 10. doi: 10.1055/s-0041-1742169. Online ahead of print. PMID: 35272364. IF: 6.681. Q1.
Plasma sICAM-1 as a Biomarker of Carotid Plaque Inflammation in Patients with a Recent Ischemic Stroke. Puig N, Camps-Renom P, Camacho M, Aguilera-Simón A, Jiménez-Altayó F, Fernández-León A, Marín R, Martí-Fàbregas J, Sánchez-Quesada JL, Jiménez-Xarrié E, Benitez S. Transl Stroke Res. 2022 Oct;13(5):745-756. doi: 10.1007/s12975-022-01002-x. Epub 2022 Mar 2. PMID: 35237947. IF:6.8. Q1
TMAO and gut microbial-derived metabolites TML and γBB are not associated with thrombotic risk in patients with venous thromboembolism. Marina Canyelles, Melania Plaza, Noemí Rotllan, Dolors Llobet, Josep Julve, Sergi Mojal, Maribel Diaz-Ricart, José Manuel Soria, Joan Carles Escolà-Gil, Mireia Tondo, Francisco Blanco-Vaca, Joan Carles Souto. Journal of Clinical Medicine. 2022 Mar 4; 11(5):1425. doi: 10.3390/jcm11051425. PMID: 35268516. IF: 4.964. Q2.
Semaphorin-3F/Neuropilin-2 Transcriptional Expression as a Predictive Biomarker of Occult Lymph Node Metastases in HNSCC. Carla Meler-Claramonte, Francesc Xavier Avilés-Jurado, Isabel Vilaseca, Ximena Terra, Paloma Bragado, Gemma Fuster, Xavier León Vintró, Mercedes Camacho. Cancers (Basel) 2022 Apr 30;14(9):2259. doi: 10.3390/cancers14092259. PMID: 35565388. IF:6.575. Q1.
Impact of pre-admission antithrombotic therapy on disease severity and mortality in patients hospitalized for COVID-19. Corrochano M, Acosta-Isaac R, Mojal S, Miqueleiz S, Rodriguez D, Quijada-Manuitt MA, Fraga E, Castillo-Ocaña M, Amaro-Hosey K, Albiol N, Soria JM, Antonijoan RM, Souto JC. J Thromb Thrombolysis. 2022 Jan;53(1):96-102. doi: 10.1007/s11239-021-02507-2. Epub 2021 Jun 17. PMID: 34138399 IF: 5.221. Q2
Incorporating Genetic and Clinical Data into the Prediction of Thromboembolism Risk in Patients with Lymphoma. Bastos Oreiro M, Ortiz J, Pradillo V, Martínez Laperche C, Salas E, Buño I, Díez JL, Soria JM, Pascual Izquierdo C. Cancer Medicine. 2021 Oct 1. doi: 10.1002/cam4.4280. Online ahead of print.PMID: 34598309. IF: 4.452. Q2.
Association of ABO haplotypes with the risk of venous thrombosis: impact on disease risks estimation. Goumidi L, Thibord F, Wiggins KL, Li-Gao R, Brown MR, Van Hylckama Vieg A, Souto JC, Soria JM, Ibrahim-Kosta M, Saut N, Dainan D, Olaso R, Amouyel P, Debette S, Boland A, Bailly P, Morrison, AC, Mook-Kanamori DO, Deleuze JF, Johnson A, De Vries P, Sabater-Lleal M, Chiaroni J, Smith NL, Rosendaal F, Chasman DI, Tré gouët DA, Morange PE. Blood. 2021 Apr 29;137(17):2394-2402 PMID: 33512453. IF: 17.794. D1.
Predictive Ability of a Clinical-Genetic Risk Score for Venous Thromboembolism iNorthern and Southern European Populations. Salas E, Farm M, Pich S, Onelöv L, Guillen K, Ortega I, Antovic JP, Soria JM. Thrombosis and Haemostasis. 2021. TH Open. 2021 Jul 8;5(3):e303-e311. doi: 10.1055/s-0041-1729626. eCollection 2021 Jul. PMID: 34263111. IF: 5.249. Q1
Impact of pre-admission antithrombotic therapy on disease severity and mortality in patients hospitalized for COVID-19. Corrochano M, Acosta-Isaac R, Mojal S, Miqueleiz S, Rodriguez D, Quijada-Manuitt MA, Fraga E, Castillo-Ocaña M, Amaro-Hosey K, Albiol N, Soria JM, Antonijoan RM, Souto JC. J Thromb Thrombolysis. 2021 Jun 17. doi: 10.1007/s11239-021-02507-2. Online ahead of print. PMID: 34138399. IF: 2.054. Q3.
Cell type specific genetic regulation of gene expression across human tissues. Kim-Hellmuth S, Aguet F, Oliva M, Muñoz-Aguirre M, Kasela S, Wucher V, Castel S, Hamel A, Viñuela A, Roberts A, Mangul A, Wen X, Wang G, Barbeira A, Garrido-Martín D, Nadel B, Zou Y, Bonazzola R, Quan J, Brown A, Martinez-Perez A, Soria JM, Getz G, Dermitzakis E, Small S, Stephens M, Xi H, Kyung Im H, Guigó R, Segrè A, Stranger B, Ardlie K, Lappalainen T. Science, Sept 2020 (DOI: https://doi.org/10.1126/science.aba3066). IF: 41.485. D1.
The impact of sex on gene expression across human tissues. Oliva M, Muñoz-Aguirre M, Kim-Hellmuth S, Wucher V, Gewirtz A, Cotter D, Parsana P, Kasela S, Balliu B, Viñuela A, Castel S, Mohammadi P, Aguet F, Zou Y, Khramtsova E, Skol A, Garrido-Martín D, Reverter F, Brown A, Evans P, Gamazon E, Payne A, Bonazzola R, Barbeira A, Hamel A, Martinez-Perez A, Soria JM, Pierce B, Stephens M, Eskin E, Dermitzakis E, Segrè A, Kyung Im H, Engelhardt B, Ardlie K, Montgomery S, Battle A, Lappalainen T, Guigó R, Stranger B. Science, Sept 2020 (DOI: https://doi.org/10.1126/science.aaz8528 ). IF: 41.485. D1.
Expression of microRNAs in human platelet-poor plasma: analysis of the factors affecting their expression and association with proximal genetic variants. Rodriguez-Rius A, Martinez-Perez A, López S, Sabater-Lleal M, Souto JC, Soria JM. Epigenetics. 2020 Jun 16. doi: 10.1080/15592294.2020.1783497. Online ahead of print. PMID: 32543954. IF: 4.173. Q1.
The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes. Peypoch O, Paüls-Vergés F, Vázquez-Santiago M, Dilme J, Romero J, Giner J, Plaza V, Escudero JR, Soria JM, Camacho M, Sabater-Lleal M. J Clin Med. 2020 Apr 24;9(4). pii: E1242. doi: 10.3390/jcm9041242. PMID: 32344696. IF: 5.688, D1
Identification of a Plasma MicroRNA Profile Associated With Venous Thrombosis. Rodriguez-Rius A, Lopez S, Martinez-Perez A, Souto JC, Soria JM. Arterioscler Thromb Vasc Biol. 2020 Mar 12:ATVBAHA120314092. doi: 10.1161/ATVBAHA.120.314092. [Epub ahead of print].PMID: 32160777. IF: 6.618, D1

A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology. 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, Soria JM, Tang W, Tofler GH, Uitterlinden AG, van Hylckama Vlieg A, Seshadri S, Boerwinkle E, 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. pii: blood-2018-05-849240. doi: 10.1182/blood-2018-05-849240. [Epub ahead of print]. PMID: 30642921, D1. IF: 16.562
Breathless and dying on Mount Everest. Garrido E, Soria JM, Salisbury R. Lancet Respir Med. 2019 Nov;7(11):e36 PMID: 31645281. IF: 22.992. D1.

Genome-wide association trans-ethnic meta-analyses identifies novel associations regulating coagulation Factor VIII and von Willebrand Factor plasma level. Sabater-Lleal M et al. INVENT Consortium; MEGASTROKE consortium of the International Stroke Genetics Consortium (ISGC). Circulation. 2019 Jan 29;139(5):620-635. doi: 10.1161/CIRCULATIONAHA.118.034532. PMID: 30586737. IF: 23.054. D1.
Multivariable clinical-genetic risk model for predicting venous thromboembolic events in patients with cancer. Muñoz Martín A, Ortega I, Font C, Pachón V, Castellón V, Martínez-Marín V, Salgado M, Martínez de Castro E, Calzas J, Rupérez A, Souto JC, Martín M, Salas E, Soria JM. Br J Cancer. 2018 Mar 28. doi: 10.1038/s41416-018-0027-8. [Epub ahead of print]. PMID: 29588512. IF: 5.416. Q1.
Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel 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 JR, Tang W, Grossman V, de Haan HG, Handin N, Silveira A, Souto JC, Franco-Cereceda A, Morange PE, Gagnon F, Soria JM, Eriksson P, Hamsten A, Maegdefessel L, Rosendaal FR, Wild P, Folsom AR, Trégouët DA, Sabater-Lleal M. Hum Mol Genet. 2017, 26(3):637-649. doi: 10.1093/hmg/ddw401. [Epub ahead of print]. PMID: 28053049. IF:4.902. D1.
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 JM. Sci Rep. 2016 Dec 15;6:39255. doi: 10.1038/srep39255. PMID: 27976734. IF: 4.259. Q1.
Exploring correlation between bone metabolism markers and densitometric traits in extended families from Spain. Athanasiadis G, Arranz L, Ziyatdinov A, Brunel H, Camacho M, Malouf J, Sosa NH, Vila L, Casademont J, Soria JM. Bone. 2016 May 27. 90:1-6, doi: 10.1016/j.bone.2016.05.009. [Epub ahead of print]. PMID: 27241279. IF: 4.140. Q1.
Genome-wide association analysis of self-reported events in 6,135 individuals and 252,827 controls identifies 8 loci associated with thrombosis. Hinds DA, Buil A, Ziemek D, Martinez-Perez A, Malik R, Folkersen L, Mälarstig A, Soria JM, Bing N, Eriksson P, Souto JC, Hamsten A, Dermitzakis ET, Tung JY, METASTROKE, Sabater-Lleal M. Hum Mol Genet. 2016, 25(9):1867-74. PMID: 26908601. IF: 5.340. D1.
Solarius: An R Interface to SOLAR for Variance Component Analysis in Pedigrees. Ziyatdinov A, Brunel H, Martinez-Perez A, Buil A, Perera A, Soria JM. Bioinformatics 2016 Feb 15. 15;32(12):1901-2. PMID: 27153684.IF: 7.307.D1.
The European Hematology Association Roadmap for European Hematology Research. Consensus Document (European Vein Thrombosis Research: Genomics in Hemostasis). Reitsma PH, Soria JM, Morange P, Engert A. Haematologica 016 Feb;101(2):115-208. doi: 10.3324/haematol.2015.136739. Epub 2016 Jan 27. PMID: 26819058. IF: 7.702. D1.

Introduction

Summary

Main lines of Research

Angiology and Vascular Biology.

TAGA Project: Genomic basis of Abdominal Aortic Aneurysm.

Venous Thrombosis and Thrombosis and cancer

GAIT Project: Genetic Analysis of Idiopathic Thrombophilia
RETROVE Project: Risk of Venous Thromboembolic Disease.
OncoThromb Project: New biomarkers related with Thrombosis and Cancer.
AIRTOP and MIRTO Projects: Assesment of the Individual Risk of Thrombosis in Oncology Patients.

Genomics in Sport Medicine

SUMMIT Project (Health in sport and its limits): Marathons and Ultra-trail races. Biological, genetic and clinical impact.

SHERPA_Everest’2017 Project. Exposition to extreme environmental hypoxia and its effect on the inflammatory and cardiopulmonar response: Biological, genetic and clinical impact.
Xtreme-Genetics K2 project. Expedition to K2 peak. Biological, genetic and clinical impact.

Transversal Research Areas

Bioinformatics and Epigenetics.
Translational Research and Personalized Medicine

Scientific Challenges

Analysis of Omics data (Genomics, transcriptomics, epigenomics) in the field of complex diseases with translational approach in cooperation with clinical groups.
Identify new biomarkers (genetic, epigenetic and/or plasmatic) that determine the susceptibility to complex diseases.
Identify new mechanisms involved in the development and progression of complex diseases.
Development of predictive algorithms that integrate the genetic, biological and clinical information of the patients (Personalized Medicine).

Scientific Collaborations

With other IIB Sant Pau Groups and Sant Pau Hospital

Thrombosis and Haemostasis, Dr. JC Souto: GAIT, MIRTO, RETROVE Projects.
Clinical Hematology, Dr. J Sierra: MIRTO Project.
Neurology, Dr. J. Marti: MIRTO Project. Elena Jimenez: Lipoproteic biomarkers. ICTUS.
Otorhinolaryngology. Dr. M Quer and Dr. X Leon. Prediction of response to head and neck cancer.
Regulatory Mechanisms of Cardiovascular Remodeling. Dra. C. Rodriguez and Dra. M Galán.
Participation en CIBERCV (CIBER of cardiovascular diseases). Dr. J González.
General and Digestive Surgery. Dra. C Balaguer
Clinical Pharmacology. Dra. MA Mangues and Dra. M Gomis. AIRTOP Project.
Neumology Service, Dr. O Sibila: SUMMIT, SHERPA Projects.

External

Clinical Oncology Department, Hospital Gregorio Marañón, Madrid,Dr. A Muñoz: ONCOTHROMB, AIRTOP Projects.
Clinical Department of Hematology and Hemostasis. University of Wien, Austria. Dra. I Pabinger. ONCOTHROMB, MIRTO Projects.
Dr. J Schwenk. SciLifeLab, Sweeden: GAIT Project
Department of Genetics, University of Genève, Switzerland, Dr. M Dermitzakis and Dr. A Viñuela: GAIT Project.
Institute of Biological Psychiatry, Sankt Hans Hospital. Roskilde, Denmark, Dr. A Buil: Bioinformatics of Complex diseases, GAIT Project.
Laboratory Haematology, Hospital Timone Marseille, France, Dr. P Morange: GAIT, VEREMA Projects.
INSERM UMR_S1219 – Bordeaux Public Health Center. Bordeaux, France. Dr. DA Tregouet: GAIT, VEREMA Projects.
Haematology Department, Karolinska Hospital, Sweden, Dr. J Odeberg: VEREMA Project.
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid. Dr. JM Redondo.
Hospital Clínic de Barcelona. Otorhinolaryngology Service. Prediction of response to head and neck cancer. Dr. FX Avilés.
Hospital Vall d’Hebron, Barcelona. Vascular Surgery Service. Dr. S Bellmunt.
Bac de Sang i Teixits (BST). Dr. F Vidal.
Centre de Recerca en Enginyeria Biomèdica, Universitat Politècnica de Catalunya, Barcelona, Dr. A Perera: SUMMIT Project.
CAR, Centre d’Alt Rendiment Sportiu, Sant Cugat. Dr. F Drobnic: Sport Medicine Projects.
CHARGE, International network consortium. Hemostatic factors studies.
GIANT, International network consortium. Anthropometric factors studies.
GLGC, International network consortium. Lipidic factors research.

With Biopharma companies

GenIncode. Development of Genetic Diagnostics in Thrombosis.
Leo-Pharma. Prediction of Thrombosis Risk in cancer patients.

Team

Group coordination

SORIA FERNANDEZ, JOSE MANUEL IR
jsoria@santpau.cat

Members

Scientific output

Publications 2022

(JIF 2022)

Bague S, Leon X, Terra X, Lejeune M, Camacho M, Aviles FX. Prognostic capacity of the transcriptional expression of lactate dehydrogenase A in patients with head and neck squamous cell carcinoma. HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK. 2022; 44(11). DOI:10.1002/hed.27161. PMID:36207788. IF:2,9 (Q1/2D). Document type: Article.
Camacho M, Leon X, Pujol A, Montezuma L, Quer M, Garcia J. Prognostic value of transcriptional expression of fibronectin type III domain-containing 4 (FNDC4) in head and neck carcinoma patients treated with chemoradiotherapy. Clinical & Translational Oncology. 2022; 24(11). DOI:10.1007/s12094-022-02870-3. PMID:35752749. IF:3,4 (Q3/6D). Document type: Article.
Canyelles M, Plaza M, Rotllan N, Llobet D, Julve J, Mojal S, Diaz M, Soria JM, Escola JC, Tondo M, Blanco F, Souto JC. TMAO and Gut Microbial-Derived Metabolites TML and gamma BB Are Not Associated with Thrombotic Risk in Patients with Venous Thromboembolism. Journal of Clinical Medicine. 2022; 11(5):1425. DOI:10.3390/jcm11051425. PMID:35268516. IF:3,9 (Q2/4D). Document type: Article.
Corrochano M, Acosta R, Mojal S, Miqueleiz S, Rodriguez D, Quijada MA, Fraga E, Castillo M, Amaro K, Albiol N, Soria JM, Antonijoan RM, Souto JC. Impact of pre-admission antithrombotic therapy on disease severity and mortality in patients hospitalized for COVID-19. JOURNAL OF THROMBOSIS AND THROMBOLYSIS. 2022; 53(1). DOI:10.1007/s11239-021-02507-2. PMID:34138399. IF:4 (Q2/4D). Document type: Article.
Cruz R, Díaz S, López de Heredia M, Quintela I, Ceballos FC, Lorenzo GM, Gonzalez R, Gago M, Porras MS, Castano J, Nevado J, Aguado JM, Aguilar C, Aguilera S, Almadana V, Almoguera B, Alvarez N, Andreu A, Arana E, Arango C, Arranz MJ, Artiga MJ, Baptista RC, Barreda M, Belhassen M, Bezerra JF, Bezerra M, Boix L, Brion M, Brugada R, Bustos M, Calderon EJ, et al. [Martínez-Pérez A, Soria JM, Souto JC, Fernández-Cadenas I]. Novel genes and sex differences in COVID-19 severity. HUMAN MOLECULAR GENETICS. 2022; 31(22). DOI:10.1093/hmg/ddac132. PMID:35708486. IF:3,5 (Q2/4D). Document type: Article.
Garcia LS, Munoz JFD. Steerable sheath for cannulation of target visceral vessels in complex endoprosthesis. Angiologia. 2022; 74(5). DOI:10.20960/angiologia.00401. Document type: Article.
Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu K-HH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, et al. [Sabater-Lleal M]. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. GENOME BIOLOGY. 2022; 23(1):268. DOI:10.1186/s13059-022-02837-1. PMID:36575460. IF:12,3 (Q1/1D). Document type: Article.
Leon X, Garcia J, Pujol A, de Juan J, Vasquez R, Quer M, Camacho M. Relationship between the transcriptional expression of PIM1 and local control in patients with head and neck squamous cell carcinomas treated with radiotherapy. EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. 2022; 279(7). DOI:10.1007/s00405-021-07223-4. PMID:34993612. IF:2,6 (Q2/3D). Document type: Article.
Lobato B, Priego B, Sanchez D. Combining Molecular, Imaging, and Clinical Data Analysis for Predicting Cancer Prognosis. Cancers. 2022; 14(13):3215. DOI:10.3390/cancers14133215. PMID:35804988. IF:5,2 (Q2/3D). Document type: Review.
Lopez S, Martinez A, Rodriguez A, Vinuela A, Brown AA, Martin L, Vilalta N, Arus M, Panousis NI, Buil A, Sabater-Lleal M, Souto JC, Dermitzakis ET, Soria JM. Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk. THROMBOSIS AND HAEMOSTASIS. 2022; 122(06). DOI:10.1055/s-0041-1742169. PMID:35272364. IF:6,7 (Q1/2D). Document type: Article.
Marín-García M, Benseny-Cases N, Camacho M, Barnadas-Rodríguez R. Chapter 11: Metallosurfactants as Carbon Monoxide-Releasing Molecules. In: Surinder M, Ravneet K (Eds). Metallosurfactants: From Fundamentals to Catalytic and Biomedical Applications. Wiley, 2022. pp.195-222. DOI:10.1002/9783527831289.ch11. ISBN:9783527348688. Document Type: Book chapter.
Meler C, Aviles FX, Vilaseca I, Terra X, Bragado P, Fuster G, Vintro XL, Camacho M. Semaphorin-3F/Neuropilin-2 Transcriptional Expression as a Predictive Biomarker of Occult Lymph Node Metastases in HNSCC. 2022; 14(9):2259. DOI:10.3390/cancers14092259. PMID:35565388. IF:5,2 (Q2/3D). Document type: Article.
Puig N, Camps P, Camacho M, Aguilera A, Jimenez F, Fernandez A, Marin R, Marti J, Sanchez JL, Jimenez E, Benitez S. Plasma sICAM-1 as a Biomarker of Carotid Plaque Inflammation in Patients with a Recent Ischemic Stroke. Translational Stroke Research. 2022; 13(5). DOI:10.1007/s12975-022-01002-x. PMID:35237947. IF:6,9 (Q1/1D). Document type: Article.
Ramdas S, Judd J, Graham SE, Kanoni S, Wang YX, Surakka I, Wenz B, Clarke SL, Chesi A, Wells A, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KHH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang ZY, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, et al. [Sabater-Lleal M]. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. AMERICAN JOURNAL OF HUMAN GENETICS. 2022; 109(8). DOI:10.1016/j.ajhg.2022.06.012. PMID:35931049. IF:9,8(Q1/1D). Document type: Article.
Soria JM, Mojal S, Martinez A, Acosta FR, López S, Miqueleiz S, Rodriguez D, Quijada MA, Cardenas A, Vidal F, Remacha A, Antonijoan RM, Souto JC. A validated clinical-genetic score for assessing the risk of thrombosis in patients with COVID-19 receiving thromboprophylaxis. HAEMATOLOGICA. 2022; 107(9). DOI:10.3324/haematol.2022.281068. PMID:35545920. IF:10,1 (Q1/2D). Document type: Article.
Stacey D, Chen LY, Stanczyk PJ, Howson JMM, Mason AM, Burgess S, MacDonald S, Langdown J, McKinney H, Downes K, Farahi N, Peters JE, Bas S, Pankowf JS, Tang WH, Pankratz N, Sabater-Lleal M, de Vries PS, Smith NL, Gelinas AD, Schneider DJ, Janjic N, Samani NJ, Ye S, Summers C, Chilvers ER, Danesh J, Paul DS, CHARGE Hemostasis Working GRP. Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus. Nature Communications. 2022; 13(1):1222. DOI:10.1038/s41467-022-28729-3. PMID:35264566. IF:16,6 (Q1/1D). Document type: Article.
Temprano G, Sitlani CM, Bone WP, Martin M, Voight BF, Morrison AC, Damrauer SM, de Vries PS, Smith NL, Sabater-Lleal M. Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations. JOURNAL OF THROMBOSIS AND HAEMOSTASIS. 2022; 20(6). DOI:10.1111/jth.15698. PMID:35285134. IF:10,4 (Q1/1D). Document type: Article.
Thibord F, Klarin D, Brody JA, Chen MH, Levin MG, Chasman DI, Goode EL, Hveem K, Teder M, Martinez A, Aissi D, Daian D, Ito K, Natarajan P, Lutsey PL, Nadkarni GN, de Vries PS, Cuellar G, Wolford BN, Pattee JW, Kooperberg C, Braekkan SK, Li RF, Saut N, Sept C, Germain M, Judy RL, Wiggins KL, Ko D, O’Donnell CJ, Taylor KD, Giulianini F, De Andrade M, Nost TH, et al. [Soria JM, Souto JC, Sabater-Lleal M]. CIRCULATION. 2022; 146(16). DOI:10.1161/CIRCULATIONAHA.122.059675. PMID:36154123. IF:37,8 (Q1/1D). Document type: Article.
Vitiello G, Soto B, Martínez MC, Targarona E. Resection of the aortic bifurcation in the treatment of locally recurrent colorectal cancer. CIRUGIA ESPANOLA. 2022; 100(3). DOI:10.1016/j.ciresp.2020.12.009. PMID:33468362. IF:1,9 (Q3/6D). Document type: Letter.
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang YX, Raghavan S, Miao JK, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin XY, Chen SH, Ferreira T, Highland HH, Ji YJ, Karaderi T, Lin K, Lull K, Malden DE, Medina C, Machado M, Moore A, Rueger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, et al. [Sabater-Lleal M]. A saturated map of common genetic variants associated with human height. NATURE. 2022; 610(7933). DOI:10.1038/s41586-022-05275-y. PMID:36224396. IF:64,8 (Q1/1D). Document type: Article.

Publications 2021

Ahluwalia TS, Prins BP, Abdollahi M, Armstrong NJ, Aslibekyan S, Bain L, Jefferis B, Baumert J, Beekman M, Ben Y, Bis JC, Mitchell BD, de Geus E, Delgado GE, Marek D, Eriksson J, Kajantie E, Kanoni S, Kemp JP, Lu C, Marioni RE, McLachlan S, Milaneschi Y, Nolte IM, Petrelis AM, Porcu E, Sabater M, Naderi E, Seppala I, Shah T, Singhal G, et al., CHARGE Inflammation Working GRP. Genome-wide association study of circulating interleukin 6 levels identifies novel loci. HUMAN MOLECULAR GENETICS. 2021; 30(5). DOI:10.1093/hmg/ddab023. PMID:33517400. IF:5,121.
Aviles-Jurado FX, Munoz C, Meler C, Flores JC, Guma J, Benaiges E, Mora J, Camacho M, Leon X, Vilaseca I, Terra X. Circulating microRNAs modulating glycolysis as non-invasive prognostic biomarkers of HNSCC. EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. 2021; 278(5):1585-1594. DOI: 10.1007/s00405-020-06240-z. PMID: 32737645. IF:3,236.
Bastos M, Ortiz J, Pradillo V, Salas E, Marinez C, Munoz A, Buno I, Diez JL, Soria JM, Izquierdo CP. Incorporating genetic and clinical data into the prediction of thromboembolism risk in patients with lymphoma. Cancer Medicine. 2021; 10(21). DOI:10.1002/cam4.4280. PMID:34598309. IF:4,711.
Bonfill X, Quintana MJ, Escudero JR, Miralles M, Fite J, Mikelarena E, Castejon B, Garnica M, De Valderrama IF, Rodriguez A, Pijoan JI, Bellmunt S. Appropriateness of surgery performed for abdominal aortic aneurysm at tertiary hospitals in Spain. INTERNATIONAL ANGIOLOGY. 2021; 40(4). DOI:10.23736/S0392-9590.21.04654-X. PMID:34060282. IF:2,103.
Canes L, Alonso J, Ballester C, Varona S, Escudero JR, Andres V, Rodriguez C, Martinez J. Targeting Tyrosine Hydroxylase for Abdominal Aortic Aneurysm Impact on Inflammation, Oxidative Stress, and Vascular Remodeling. HYPERTENSION. 2021; 78(3). DOI:10.1161/HYPERTENSIONAHA.121.17517. PMID:34304581. IF:9,897.
Ellervik C, Mora S, Kus A, Asvold B, Marouli E, Deloukas P, Sterenborg RBTM, Teumer A, Burgess S, Sabater M, Huffman J, Johnson AD, Tregouet DA, Smith NL, Medici M, DeVries PS, Chasman DI, Kjaergaard AD. Effects of Thyroid Function on Hemostasis, Coagulation, and Fibrinolysis: A Mendelian Randomization Study. THYROID. 2021; 31(9). DOI:10.1089/thy.2021.0055. PMID:34210154. IF:6,506.
Fite J, Gayarre R, Puig T, Zamora S, Escudero JR, Roca JS, Bellmunt S. Feasibility and Efficiency Study of a Population-Based Abdominal Aortic Aneurysm Screening Program in Men and Women in Spain. ANNALS OF VASCULAR SURGERY. 2021; 73. DOI:10.1016/j.avsg.2020.11.042. PMID:33387620. IF:1,607.
Fite J, Gimenez E, Soto B, Artigas V, Escudero JR, Bellmunt S, Espallargues M. Systematic review on abdominal aortic aneurysm screening cost-efficiency and methodological quality assessment. INTERNATIONAL ANGIOLOGY. 2021; 40(1). DOI:10.23736/S0392-9590.20.04547-2. PMID:33086780. IF:2,103.
Goncalves G, Gil D, Tello C, Tenezaca X, Marrero C, Puig T, Gayarre R, Fite J, Bellmunt S. Prevalence of Peripheral Arterial Disease and Associated Vascular Risk Factors in 65-Years-Old People of Northern Barcelona. Journal of Clinical Medicine. 2021; 10(19):4467. DOI:10.3390/jcm10194467. PMID:34640483. IF:4,964.
Goumidi L, Thibord F, Wiggins KL, Li RF, Brown MR, Vlieg AV, Souto JC, Soria JM, Ibrahim M, Saut N, Daian D, Olaso R, Amouyel P, Debette S, Boland A, Bailly P, Morrison AC, Mook DO, Deleuze JF, Johnson A, de Vries PS, Sabater M, Chiaroni J, Smith NL, Rosendaal FR, Chasman DI, Tregouet DA, Morange PE. Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation. BLOOD. 2021; 137(17). DOI:10.1182/blood.2020008997. PMID:33512453. IF:25,476.
Graham SE, Clarke SL, Wu KHH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, et al. [Sabater M]. The power of genetic diversity in genome-wide association studies of lipids. NATURE. 2021; 600(7890). DOI:10.1038/s41586-021-04064-3. PMID:34887591. IF:69,504.
Guo YJ, Rist PM, Sabater M, de Vries P, Smith N, Ridker PM, Kurth T, Chasman DI. Association Between Hemostatic Profile and Migraine A Mendelian Randomization Analysis. NEUROLOGY. 2021; 96(20). DOI:10.1212/WNL.0000000000011931. PMID:33795393. IF:11,800.
Leon X, Venegas M, Pujol A, Bulboa C, Llansana A, Casasayas M, Quer M, Camacho M. Predictive value of transcriptional expression of Kruppel-like factor-6 (KLF6) in head and neck carcinoma patients treated with radiotherapy. Clinical & Translational Oncology. 2021; 23(12). DOI:10.1007/s12094-021-02651-4. PMID:34061320. IF:3,340.
Mendez KA, Rodriguez E, Sebastian D, Blanco R, Camacho M, Nan MN, Diarte E, Mato E, Lope S, Roglans N, Laguna JC, Alonso N, Mauricio D, Zorzano A, Villarroya F, Villena JA, Blanco F, Julve J. Nicotinamide Protects Against Diet-Induced Body Weight Gain, Increases Energy Expenditure, and Induces White Adipose Tissue Beiging. MOLECULAR NUTRITION & FOOD RESEARCH. 2021; 65(11):2100111. DOI:10.1002/mnfr.202100111. PMID:33870623. IF:6,575.
Paloschi V, Sabater M, Middelkamp H, Vivas A, Johansson S, van der Meer A, Tenje M, Maegdefessel L. Organ-on-a-chip technology: a novel approach to investigate cardiovascular diseases. CARDIOVASCULAR RESEARCH. 2021; 117(14). DOI:10.1093/cvr/cvab088. PMID:33729461. IF:13,081.
Rotllan N, Camacho M, Tondo M, Diarte E, Canyelles M, Mendez KA, Benitez S, Alonso N, Mauricio D, Escola JC, Blanco F, Julve J. Therapeutic Potential of Emerging NAD plus -Increasing Strategies for Cardiovascular Diseases. Antioxidants. 2021; 10(12):1939. DOI:10.3390/antiox10121939. IF:7,675.
Sanchez D, Nus M, Navas M, Fite J, Perez B, Barros AJ, Soto B, Martinez J, Camacho M, Rodriguez C, Mallat Z, Galan M. Oxidative Stress and Inflammatory Markers in Abdominal Aortic Aneurysm. Antioxidants. 2021; 10(4):602. DOI:10.3390/antiox10040602. PMID:33919749. IF:7,675.
Sanchez L, Fite J, Peypoch O, Moreno J, Jubert Q, Carricas BS, Dilme JF, Escudero JR. Preoperative geriatric assessment, a promising tool to improve outcomes in aortic pathology interventions. INTERNATIONAL ANGIOLOGY. 2021; 40(4). DOI:10.23736/S0392-9590.21.04643-5. PMID:33913311. IF:2,103.
Small AM, Huffman JE, Klarin D, Sabater M, Lynch JA, Assimes TL, Sun YV, Miller D, Freiberg MS, Morrison AC, Rader DJ, Wilson PWF, Cho K, Tsao PS, Chang KM, Smith NL, O’Donnell CJ, de Vries PS, Damrauer SM, Cohorts Heart Aging Res Genomic &, VA Million Veteran P. Mendelian Randomization Analysis of Hemostatic Factors and Their Contribution to Peripheral Artery Disease-Brief Report. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY. 2021; 41(1). DOI:10.1161/ATVBAHA.119.313847. PMID:32847391. IF:10,514.
Thibord F, Song C, Pattee J, Rodriguez B, Chen MH, O’Donnell CJ, Kleber ME, Delgado GE, Guo XQ, Yao J, Taylor KD, Ozel AB, Brody JA, McKnight B, Gyorgy B, Simonsick E, Leonard HL, Carrasquilla GD, Guindo M, Silveira A, Temprano G, Yanek LR, Becker DM, Mathias RA, Becker LC, Raffield LM, Kilpelainen TO, Grarup N, Pedersen O, Hansen T, et al. [Sabater M]. FGL1 as a modulator of plasma D-dimer levels: Exome-wide marker analysis of plasma tPA, PAI-1, and D-dimer. JOURNAL OF THROMBOSIS AND HAEMOSTASIS. 2021; 19(8). DOI:10.1111/jth.15345. PMID:33876560. IF:16,036.
Varona S, Puertas L, Galan M, Orriols M, Canes L, Aguilo S, Camacho M, Sirvent M, Andres V, Martinez J, Rodriguez C. Rolipram Prevents the Formation of Abdominal Aortic Aneurysm (AAA) in Mice: PDE4B as a Target in AAA. Antioxidants. 2021; 10(3):460. DOI:10.3390/antiox10030460. PMID:33809405. IF:7,675.

CARDIOVASCULAR DISEASES

Genomics of Complex Diseases

Summary

Main lines of Research

Scientific Challenges

Scientific Collaborations

Group coordination

Members

Publications 2022

Publications 2021

IIB-Sant-Pau-2020 Report. Genomics

Relevant Publications of the last 5 years

Summary

Main lines of Research

Scientific Challenges

Scientific Collaborations

Group coordination

Members

Publications 2022

Publications 2021

Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau