J C Souto

Summary

Affiliation: Hospital de la Santa Creu i Sant Pau
Country: Spain

Publications

  1. pmc A genomewide exploration suggests a new candidate gene at chromosome 11q23 as the major determinant of plasma homocysteine levels: results from the GAIT project
    Juan Carlos Souto
    Unitat de Trombosi i Hemostasia, Departament d Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Am J Hum Genet 76:925-33. 2005
  2. ncbi request reprint Genetic studies in complex disease: the case pro linkage studies
    J C Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    J Thromb Haemost 1:1676-8. 2003
  3. ncbi request reprint Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism
    J C Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Avda Sant Antoni Ma Claret 167, 08025 Barcelona, Spain
    Haematologica 84:627-32. 1999
  4. ncbi request reprint Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time
    J C Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Arterioscler Thromb Vasc Biol 20:2024-8. 2000
  5. ncbi request reprint Genetic regulation of plasma levels of vitamin K-dependent proteins involved in hematostatis: results from the GAIT Project. Genetic Analysis of Idiopathic Thrombophilia
    J C Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Thromb Haemost 85:88-92. 2001
  6. ncbi request reprint Genome-wide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project
    Juan Carlos Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona Spain
    Thromb Haemost 89:468-74. 2003
  7. ncbi request reprint Search for new thrombosis-related genes through intermediate phenotypes. Genetic and household effects
    Juan Carlos Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Pathophysiol Haemost Thromb 32:338-40. 2002
  8. ncbi request reprint Thromboplastin-thrombomodulin-mediated time and serum folate levels are genetically correlated with the risk of thromboembolic disease: results from the GAIT project
    Juan Carlos Souto
    Unitat d Hemostasia i Trombosi, Departament d Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Thromb Haemost 87:68-73. 2002
  9. ncbi request reprint Linkage analysis demonstrates that the prothrombin G20210A mutation jointly influences plasma prothrombin levels and risk of thrombosis
    J M Soria
    Unitat d Hemostàsia i Trombosi Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Blood 95:2780-5. 2000
  10. ncbi request reprint Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies
    I Tirado
    Thrombosis and Hemostasis Unit, Hematology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Haematologica 86:1200-8. 2001

Collaborators

Detail Information

Publications39

  1. pmc A genomewide exploration suggests a new candidate gene at chromosome 11q23 as the major determinant of plasma homocysteine levels: results from the GAIT project
    Juan Carlos Souto
    Unitat de Trombosi i Hemostasia, Departament d Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Am J Hum Genet 76:925-33. 2005
    ..These data could be relevant in determining the relationships between Hcy level, cardiovascular disease, osteoporosis, and Alzheimer disease...
  2. ncbi request reprint Genetic studies in complex disease: the case pro linkage studies
    J C Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    J Thromb Haemost 1:1676-8. 2003
  3. ncbi request reprint Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism
    J C Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Avda Sant Antoni Ma Claret 167, 08025 Barcelona, Spain
    Haematologica 84:627-32. 1999
    ..Here, we describe a pedigree including both heterozygous and homozygous subjects for prothrombin (PT) 20210 A...
  4. ncbi request reprint Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time
    J C Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Arterioscler Thromb Vasc Biol 20:2024-8. 2000
    ..This study is unique because it used a combined linkage and association test, which indicated that the ABO locus itself has a functional effect on these plasma phenotypes...
  5. ncbi request reprint Genetic regulation of plasma levels of vitamin K-dependent proteins involved in hematostatis: results from the GAIT Project. Genetic Analysis of Idiopathic Thrombophilia
    J C Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Thromb Haemost 85:88-92. 2001
    ..However, since these phenotypes show a high degree of environmental correlation, it is also likely that the same environmental factors influence them co-jointly...
  6. ncbi request reprint Genome-wide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project
    Juan Carlos Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona Spain
    Thromb Haemost 89:468-74. 2003
    ..It is possible that there are other potential regions on chromosomes 1, 2, 5, 6 and 22 that influence this thrombosis risk factor. However, the structural vWF gene itself has a very low influence (if any) on the plasma levels of vWF...
  7. ncbi request reprint Search for new thrombosis-related genes through intermediate phenotypes. Genetic and household effects
    Juan Carlos Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Pathophysiol Haemost Thromb 32:338-40. 2002
    ..Only in 16 of the 56 (29%) of the studied phenotypes, were household effects reported. These results are primordial in the design of further studies consisting in wide-genome explorations in the search for the underlying genes...
  8. ncbi request reprint Thromboplastin-thrombomodulin-mediated time and serum folate levels are genetically correlated with the risk of thromboembolic disease: results from the GAIT project
    Juan Carlos Souto
    Unitat d Hemostasia i Trombosi, Departament d Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Thromb Haemost 87:68-73. 2002
    ..The high heritabilities and significant genetic correlations between thrombosis and some risk factors suggest that joint consideration of correlated quantitative phenotypes will aid in identifying susceptibility genes...
  9. ncbi request reprint Linkage analysis demonstrates that the prothrombin G20210A mutation jointly influences plasma prothrombin levels and risk of thrombosis
    J M Soria
    Unitat d Hemostàsia i Trombosi Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Blood 95:2780-5. 2000
    ..Blood. 2000;95:2780-2785)..
  10. ncbi request reprint Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies
    I Tirado
    Thrombosis and Hemostasis Unit, Hematology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Haematologica 86:1200-8. 2001
    ....
  11. ncbi request reprint The prothrombin 20210A allele is the most prevalent genetic risk factor for venous thromboembolism in the Spanish population
    J C Souto
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barceolan, Spain
    Thromb Haemost 80:366-9. 1998
    ..The prevalence found in this study for healthy people is the highest reported to date. The 20210 A variant appears to be the most prevalent genetic risk factor among patients with thrombosis in our geographical area...
  12. ncbi request reprint Risk of ischemic stroke associated with functional thrombin-activatable fibrinolysis inhibitor plasma levels
    A Santamaria
    Department of Hematology, Hospital de la Santa Creu i Sant Pau, C Sant Antoni Ma Claret, 167, 08025 Barcelona, Spain
    Stroke 34:2387-91. 2003
    ..The relevance of TAFI in thromboembolic disease is unclear. We have investigated the risk of ischemic stroke (IS) in relation to plasma levels of functional TAFI...
  13. ncbi request reprint Risk of thrombosis associated with oral contraceptives of women from 97 families with inherited thrombophilia: high risk of thrombosis in carriers of the G20210A mutation of the prothrombin gene
    A Santamaria
    Thrombosis and Haemostasis Unit, Haematology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Haematologica 86:965-71. 2001
    ..However, there are only few studies on the risk of VTE in women with inherited thrombophilia who use oral contraceptives...
  14. doi request reprint Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain
    G Athanasiadis
    Unit of Genomics of Complex Diseases, Research Institute, Hospital de Santa Creu i Sant Pau, Barcelona, Spain
    J Thromb Haemost 11:521-8. 2013
    ..Plasma β2 -GPI levels have a significant genetic component (heritability of ~ 80%)...
  15. ncbi request reprint Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis
    Isabel Tirado
    Unitat d Hemostasi i Trombosi, Departament d Hematologia, Hospital de la Santa Creu i Sant Pau, C Sant Antoni Ma Claret, 167 08025, Barcelona, Spain
    Thromb Haemost 91:899-904. 2004
    ..In addition, our results confirm that a genome-wide scan coupled with a classical case-control association study is an extremely valuable approach to identify DNA variants that affect complex diseases...
  16. pmc Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels
    Francesc Calafell
    Departament de Ciencies Experimentals i de la Salut, Institute of Evolutionary Biology UPF CSIC, Universitat Pompeu Fabra, Barcelona, Spain
    Hum Mol Genet 19:517-25. 2010
    ..Our study provides a template for future genetic studies of human quantitative traits, as we move beyond QTL localization to the polymorphisms responsible for the variation of important biomedical phenotypes...
  17. ncbi request reprint Low-molecular-weight heparin as bridging therapy during interruption of oral anticoagulation in patients undergoing colonoscopy or gastroscopy
    M Constans
    Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de Santa Creu i Sant Pau, Barcelona, Spain
    Int J Clin Pract 61:212-7. 2007
    ..Two patients developed pruritus at the punction site. Fixed-dose high-risk thromboprophilactic therapy with bemiparin (Hibor) is safe and effective as a bridging therapy in patients under OAT who require GC or CC...
  18. doi request reprint SNP sets selection under mutual information criterion, application to F7/FVII dataset
    H Brunel
    Institut de Bioenginyeria de Catalunya, Centre de Recerca en Enginyeria Biomedica, Departament de Enginyeria, de Sistemes, Automàtica i Informàtica Industrial, Universitat Politcénica de Catalunya, Pau Gargallo 5, Barcelona, Spain
    Conf Proc IEEE Eng Med Biol Soc 2008:3783-6. 2008
    ..This algorithm is applied to a sample of independent individuals from the GAIT project. Main SNPs found by the algorithm are in correspondence with previous results published using family-based techniques...
  19. ncbi request reprint Protein C levels are regulated by a quantitative trait locus on chromosome 16: results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) Project
    Alfonso Buil
    Unitat d Hemostasia i Trombosi, Departament d Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Arterioscler Thromb Vasc Biol 24:1321-5. 2004
    ..As part of the Genetic Analysis of Idiopathic Thrombophilia (GAIT) Project, we conducted a genome-wide linkage scan to localize genes that influence variation in PC plasma levels...
  20. pmc A genome-wide exploration suggests an oligogenic model of inheritance for the TAFI activity and its antigen levels
    Maria Sabater-Lleal
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, C Sant Antoni M Claret 167 08025, Barcelona, Spain
    Hum Genet 124:81-8. 2008
    ....
  21. ncbi request reprint Double heterozygosity for Factor V Leiden and Factor V Cambridge mutations associated with low levels of activated protein C resistance in a Spanish thrombophilic family
    Amparo Santamaria
    Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, C Sant Antoni Ma Claret, 167, 08025 Barcelona, Spain
    Thromb Haemost 93:1193-5. 2005
  22. ncbi request reprint A genome search for genetic determinants that influence plasma fibrinogen levels
    Jose Manuel Soria
    Unitat d Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Arterioscler Thromb Vasc Biol 25:1287-92. 2005
    ..Fibrinogen levels are a widely accepted risk factor for cardiovascular disease, but the extent of the genetic component is unknown...
  23. ncbi request reprint Association of functional thrombin-activatable fibrinolysis inhibitor (TAFI) with conventional cardiovascular risk factors and its correlation with other hemostatic factors in a Spanish population
    Amparo Santamaria
    Unit of Haemostasis and Thrombosis, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain
    Am J Hematol 76:348-52. 2004
    ..We also found no correlation of functional TAFI levels related to any other hemostatic factors...
  24. ncbi request reprint Homozygosity of the T allele of the 46 C->T polymorphism in the F12 gene is a risk factor for ischemic stroke in the Spanish population
    Amparo Santamaria
    Hemostasia Unit, Department of Hematology, Universitat Autonoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Stroke 35:1795-9. 2004
    ..We have investigated the risk of IS related to this polymorphism in a case-control study...
  25. pmc A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease
    Jose Manuel Soria
    Unitat d Hemostasia i Trombosi, Departament d Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Am J Hum Genet 70:567-74. 2002
    ....
  26. ncbi request reprint Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency
    Y Espinosa-Parrilla
    Departament de Genètica Mèdica i Molecular, Institut de Recerca Oncologica, Barcelona, Spain
    Hum Mutat 14:30-9. 1999
    ..From these results we conclude that while mutations in PROS1 are the main cause of type I PS deficiency, the molecular basis of the type III phenotype is probably more complex, with many cases not being explained by a PROS1 mutation...
  27. pmc Heritability of thromboxane A2 and prostaglandin E2 biosynthetic machinery in a Spanish population
    Luis Vila
    H S Creu i S Pau, S Antonio M Claret 167, 08025 Barcelona, Spain
    Arterioscler Thromb Vasc Biol 30:128-34. 2010
    ..Although some studies suggest that there are genes that determine variability of some prostanoid-related phenotypes, the genetic influence on these traits has not been evaluated...
  28. pmc C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies
    Alfonso Buil
    Unitat de Genomica de Malalties Complexes, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Blood 115:4644-50. 2010
    ..This SNP was not associated with free PS or total PS. In conclusion, we observed strong evidence that the C4BPB/C4BPA locus is a new susceptibility locus for VT through a PS-independent mechanism that remains to be elucidated...
  29. pmc Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels
    Sonia Lopez
    Department of Hematology, Haemostasis and Thrombosis Unit, Hospital de la Santa Creu i Sant Pau, C Sant Antoni Maria Claret 167, Barcelona, Spain
    Eur J Hum Genet 16:1372-9. 2008
    ..These data should serve as the basis for further detection of candidate genes and to elucidate the relationship between the concentration of Lp(a) and cardiovascular risk...
  30. ncbi request reprint Enhanced risk of thrombotic disease in patients with acquired vitamin B12 and/or folate deficiency: role of hyperhomocysteinemia
    A F Remacha
    Department of Hematology, Hospital de la Santa Creu i Sant Pau, Avda Padre Claret 167, Barcelona 08025, Spain
    Ann Hematol 81:616-21. 2002
    ..However, a more extensive study that controls risk variables and genetic factors is needed to sort out the various contributing factors...
  31. ncbi request reprint The F7 gene and clotting factor VII levels: dissection of a human quantitative trait locus
    Jose Manuel Soria
    Unitat d Hemostasia i Trombosi, Departament d Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Hum Biol 77:561-75. 2005
    ..These variants include both rare coding variants and more common, potentially regulatory polymorphisms in intronic and promoter regions...
  32. pmc Values and preferences in oral anticoagulation in patients with atrial fibrillation, physicians' and patients' perspectives: protocol for a two-phase study
    Pablo Alonso-Coello
    Iberoamerican Cochrane Center, Hospital Sant Pau, Sant Antoni Maria Claret 171, Barcelona, Spain
    BMC Health Serv Res 8:221. 2008
    ..The literature postulates that patient and clinician preferences may explain this low utilization...
  33. ncbi request reprint Clustering of individuals given SNPs similarity based on normalized mutual information: F7 SNPs in the GAIT sample
    Alexandre Perera
    Centre de Recerca en Enginyeria Biomedica, Dept d Eng Sistemes i Automatica Industrial, Universitat Politecnica de Catalunya, Pau Gargallo, 5, 08028 Barcelona, Spain
    Conf Proc IEEE Eng Med Biol Soc 2007:123-6. 2007
    ..This genetic variability corresponds to results published using a complete different approach in population genetics literature. Identified groups are shown to express significant differences in the level of FVII concentration...
  34. pmc A nonsense polymorphism in the protein Z-dependent protease inhibitor increases the risk for venous thrombosis
    Javier Corral
    Centro Regional de Hemodonacion, Universidad de Murcia, Murcia, Spain
    Blood 108:177-83. 2006
    ..Although further studies are required, all available data support that the ZPI is a candidate to play a significant role in thrombosis and should be evaluated in thrombophilic studies...
  35. ncbi request reprint Heritability of hemostasis phenotypes and their correlation with type 2 diabetes status in Mexican Americans
    Diane M Warren
    Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX, USA
    Hum Biol 77:1-15. 2005
    ..40) and tPS (-0.31). Our results suggest that genes are important contributors to the normal variation in hemostasis-related traits and that genes influencing hemostasis-related traits pleiotropically influence diabetes risk...
  36. ncbi request reprint Genetic determinants of iron metabolism plasma phenotypes and their relationship with risk of thrombosis
    Juan Carlos Souto
    Haematologica 88:1436-8. 2003
  37. ncbi request reprint A quantitative trait locus influencing free plasma protein S levels on human chromosome 1q: results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) project
    Laura Almasy
    Department of Genetics, Southwest Foundation for Biomedical Research, PO Box 760549, San Antonio, TX 78245 0549, USA
    Arterioscler Thromb Vasc Biol 23:508-11. 2003
    ..As part of the Genetic Analysis of Idiopathic Thrombophilia (GAIT) project, we conducted a genome-wide linkage screen to localize genes influencing variation in free PS (fPS) plasma levels...
  38. ncbi request reprint Comparing self-management of oral anticoagulant therapy with clinic management: a randomized trial
    Bárbara Menéndez-Jándula
    Hospital de la Santa Creu i Sant Pau and Fundació Puigvert, Barcelona, Spain
    Ann Intern Med 142:1-10. 2005
    ..Control of oral anticoagulant treatment has been reported to be suboptimal, but previous studies suggest that patient self-management improves control...
  39. ncbi request reprint Fondaparinux (ARIXTRA) as an alternative anti-thrombotic prophylaxis when there is hypersensitivity to low molecular weight and unfractionated heparins
    Rocio Parody
    Unitat d Hemòstasia i Trombosi Hospital de la Santa Creu i Sant Pau Barcelona, Spain
    Haematologica 88:ECR32. 2003
    ..We decided to use fondaparinux in both cases since it is commercially available in Spain and mostly because the absence of in vitro cross-reaction with heparins, as discussed later...