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6 results on '"Sevilla-Pérez B"'

1. Influence of IL17A gene on the pathogenesis of immunoglobulin-A vasculitis.

Author

López-Mejías R, Genre F, Remuzgo-Martínez S, Pulito-Cueto V, Sevilla-Pérez B, Llorca J, Ortego-Centeno N, Mijares V, Lera-Gómez L, Leonardo MT, Peñalba A, Cabero MJ, Martín-Penagos L, Miranda-Filloy JA, Navas Parejo A, Sánchez Pérez J, de Argila D, Rubio E, León Luque M, Blanco-Madrigal JM, Galíndez-Agirregoikoa E, Martín J, Blanco R, Castañeda S, and González-Gay MA

Subjects
Case-Control Studies, Gene Regulatory Networks, Haplotypes, Humans, Polymorphism, Single Nucleotide, Vasculitis pathology, Genetic Predisposition to Disease, Immunoglobulin A, Interleukin-17 genetics, Vasculitis genetics
Abstract

Objectives: Cytokines signaling pathway genes represent a key component of the genetic network implicated in the pathogenesis of immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology. Interleukin (IL)17A is described as a genetic risk locus for some autoimmune diseases, such as giant cell arteritis and spondyloarthritis. Accordingly, we aimed to determine the potential influence of IL17A on the pathogenesis of IgAV., Methods: Five IL17A tag polymorphisms (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909), which cover the major variability of this gene, were genotyped in 360 Caucasian patients with IgAV and 1,003 sex and ethnically matched healthy controls using TaqMan probes., Results: No statistically significant differences between patients with IgAV and healthy controls were observed when each IL17A genetic variant was analysed independently. Similarly, no statistically significant differences between patients with IgAV and healthy controls were found when the five IL17A polymorphisms were evaluated combined conforming haplotypes. In addition, there were no statistically significant differences in genotype, allele and haplotype frequencies of IL17A when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations., Conclusions: Our results do not support an influence of IL17A on the pathogenesis of IgAV.

Published
2020

2. Role of IRF5 in the pathogenesis of immunoglobulin-A vasculitis.

Author

Genre F, Remuzgo-Martínez S, Prieto-Peña D, Atienza-Mateo B, Pulito-Cueto V, Llorca J, Sevilla-Pérez B, Ortego-Centeno N, Lera-Gómez L, Leonardo MT, Peñalba A, Cabero MJ, Martín-Penagos L, Miranda-Filloy JA, Navas Parejo A, Sánchez Pérez J, de Argila D, Rubio E, León Luque M, Blanco-Madrigal JM, Galíndez-Agirregoikoa E, Blanco R, Gualillo O, Martín J, Castañeda S, González-Gay MA, and López-Mejías R

Subjects
Case-Control Studies, Genotype, Haplotypes, Humans, Polymorphism, Single Nucleotide, Genetic Predisposition to Disease, Immunoglobulin A, Interferon Regulatory Factors genetics, Vasculitis genetics
Abstract

Objectives: Interferon regulatory factor 5 (IRF5) is a major regulator of type I interferon induction and is also critical to produce pro-inflammatory cytokines. An influence of IRF5 genetic variants on the increased risk of immune-mediated diseases has been described. Accordingly, we aimed to evaluate the implication of IRF5 in the pathogenesis of Immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology., Methods: Three tag genetic variants (rs2004640, rs2070197 and rs10954213), representative of 3 different haplotype blocks within IRF5, were genotyped in 372 Caucasian patients with IgAV and 876 sex and ethnically matched healthy controls by TaqMan assays., Results: No significant differences in the genotype and allele frequencies between patients with IgAV and healthy controls were observed when each IRF5 polymorphism was evaluated independently. Likewise, no significant differences between patients with IgAV and healthy controls were found when we assessed the three IRF5 polymorphisms combined, conforming haplotypes. In addition, there were no significant differences in genotype, allele and haplotype frequencies of IRF5 when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations., Conclusions: Our results do not support an influence of IRF5 on the pathogenesis of IgAV.

Published
2020

3. No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and Henoch-Schönlein purpura.

Author

López-Mejías R, Sevilla Pérez B, Genre F, Castañeda S, Ortego-Centeno N, Llorca J, Ubilla B, Ochoa R, Pina T, Marquez A, Sala-Icardo L, Miranda-Filloy JA, Rueda-Gotor J, Martín J, Blanco R, and González-Gay MA

Subjects
Adult, Child, Disease Progression, Female, Gene Frequency, Genetic Association Studies, Genotype, Humans, IgA Vasculitis immunology, Male, Polymorphism, Genetic, Spain, Cytokine Receptor gp130 genetics, Genetic Predisposition to Disease, IgA Vasculitis genetics, Receptors, Interleukin-6 genetics
Abstract

Henoch-Schönlein purpura (HSP) is the most common type of primary small-sized blood vessel vasculitis in children and an uncommon condition in adults. Interleukin (IL)-6 is a proinflammatory cytokine whose effect is controlled by the IL-6 receptor (IL-6R). IL-6 transducer (IL-6ST/gp130) is the signal-transducing subunit of the IL-6R. Two hundred and eighty five Spanish HSP patients and 877 sex and ethnically matched controls were genotyped for the IL6R rs2228145 and IL6ST/gp130 rs2228044 functional polymorphisms. No significant differences in the genotype and allele frequencies between HSP patients and controls were observed. Moreover, there were no differences between HSP patients according to the age at disease onset, presence of nephritis or gastrointestinal manifestations. Our results do not confirm association of IL6R rs2228145 and IL6ST/gp130 rs2228044 polymorphisms with HSP., (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Published
2013
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4. Influence of IL17A gene on the pathogenesis of immunoglobulin-A vasculitis

Author

López-Mejías, R., Genre, F., Remuzgo-Martínez, S., Pulito-Cueto, Verónica, Sevilla-Pérez, B., Llorca, J., Ortego-Centeno, N., Mijares, V., Lera-Gómez, L., Leonardo, M.T., Peñalba, A., Cabero, M.J., Martín-Penagos, L., Miranda-Filloy, J. A., Navas Parejo, A., Sánchez Pérez, J., de Argila, D., Rubio, E., León Luque, M., Blanco-Madrigal, J.M., Galíndez-Agirregoikoa, E., Martín, J., Blanco, R., Castañeda, S., and González-Gay, M. A.

Subjects
Vasculitis, Haplotypes, Case-Control Studies, Interleukin-17, Humans, Gene Regulatory Networks, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Immunoglobulin A
Abstract

OBJECTIVES: Cytokines signaling pathway genes represent a key component of the genetic network implicated in the pathogenesis of immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology. Interleukin (IL)17A is described as a genetic risk locus for some autoimmune diseases, such as giant cell arteritis and spondyloarthritis. Accordingly, we aimed to determine the potential influence of IL17A on the pathogenesis of IgAV. METHODS: Five IL17A tag polymorphisms (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909), which cover the major variability of this gene, were genotyped in 360 Caucasian patients with IgAV and 1,003 sex and ethnically matched healthy controls using TaqMan probes. RESULTS: No statistically significant differences between patients with IgAV and healthy controls were observed when each IL17A genetic variant was analysed independently. Similarly, no statistically significant differences between patients with IgAV and healthy controls were found when the five IL17A polymorphisms were evaluated combined conforming haplotypes. In addition, there were no statistically significant differences in genotype, allele and haplotype frequencies of IL17A when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. CONCLUSIONS: Our results do not support an influence of IL17A on the pathogenesis of IgAV.

5. Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schönlein purpura (IgA vasculitis)

Author

J. M. Blanco-Madrigal, Fernanda Genre, Javier Llorca, José A. Miranda-Filloy, Verónica Mijares, Santos Castañeda, Norberto Ortego-Centeno, Diego de Argila, Antonio Navas Parejo, Javier Martín, Belén Sevilla Pérez, Vanesa Calvo-Río, Javier Sánchez-Pérez, J. Gonzalo Ocejo-Vinyals, Miguel A. González-Gay, Natalia Palmou, E. Rubio, Begoña Ubilla, Sara Remuzgo-Martínez, Ricardo Blanco, Trinitario Pina, Manuel León Luque, Raquel López-Mejías, Eva Galíndez-Aguirregoikoa, Universidad de Cantabria, Instituto de Salud Carlos III, Red de Investigación en Inflamación y Enfermedades Reumáticas (España), [López-Mejías,R, Genre,F, Remuzgo-Martínez,S, Ubilla,B, Mijares,V, Pina,T, Calvo-Río,V, Palmou,N, Blanco,R, González-Gay,MA] Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain. [Sevilla Pérez,B, Ortego-Centeno,N] Department of Medicine, Hospital Universitario San Cecilio, Granada, Spain. [Castañeda,S] Rheumatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain. [Llorca,J] Epidemiology and Computational Biology Department, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain. [Miranda-Filloy,JA] Division of Rheumatology, Hospital Universitario Lucus Augusti, Lugo, Spain. [Navas Parejo,A] Nephrology Department, Hospital Universitario San Cecilio, Granada, Spain. [Argila,D, Sánchez-Pérez,J] Dermatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain. [Rubio,E, León Luque,M] Rheumatology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Blanco-Madrigal,JM, Galíndez-Aguirregoikoa,E] Rheumatology Department, Hospital Universitario de Basurto, Bilbao, Spain. [Ocejo-Vinyals,JG] Immunology Department, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Martín,J] Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain. [González-Gay,MA] Cardiovascular Pathophysiology and Genomics Research Unit, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., and This study was supported by a grant from 'Fondo de Investigaciones Sanitarias' PI12/00193 (Spain). RLM is a recipient of a Sara Borrell postdoctoral fellowship from the Instituto de Salud Carlos III at the Spanish Ministry of Health (Spain) (CD12/00425). FG and BU are supported by funds from the RETICS Program (RIER) (RD12/0009/0013).

Subjects
Male, Henoch-Schonlein purpura, Polimorfismo de nucleótido simple, España, Protein tyrosine phosphatase, CSK Tyrosine-Protein Kinase, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Gene Frequency, immune system diseases, Diseases::Hemic and Lymphatic Diseases::Hematologic Diseases::Blood Coagulation Disorders::Purpura::Purpura, Schoenlein-Henoch [Medical Subject Headings], hemic and lymphatic diseases, Genotype, Medicine, Immunology and Allergy, Masculino, Child, Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Purpura, Schoenlein-Henoch, Adulto, Femenino, Predisposición genética a la enfermedad, Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings], Humanos, src-Family Kinases, Niño, Proteína tirosina fosfatasa no receptora tipo 22, Female, Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings], Tyrosine kinase, Research Article, Adult, medicine.medical_specialty, IgA Vasculitis, Immunology, Púrpura de Schoenlein-Henoch, Check Tags::Male [Medical Subject Headings], Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, PTPN22, Rheumatology, Internal medicine, Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], Humans, Genetic Predisposition to Disease, Allele frequency, Named Groups::Persons::Age Groups::Child [Medical Subject Headings], Frecuencia de los genes, Reacción en cadena en tiempo real de la polimerasa, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide [Medical Subject Headings], business.industry, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction::Real-Time Polymerase Chain Reaction [Medical Subject Headings], Protein Tyrosine Phosphatase, Non-Receptor Type 22, medicine.disease, IgA vasculitis, Check Tags::Female [Medical Subject Headings], Spain, business, Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings], Genotipo
Abstract

[Introduction] To determine whether the PTPN22 (protein tyrosine phosphatase nonreceptor 22)/CSK (c-src tyrosine kinase) pathway is implicated in the susceptibility and clinical heterogeneity of Henoch-Schönlein purpura (HSP) in the largest series of Caucasian HSP patients ever assessed for genetic studies., [Methods] A set of 329 Spanish patients diagnosed with HSP fulfilling the American College of Rheumatology and the Michel et al. classification criteria and 515 sex and ethnically matched controls were recruited in this study. Two well-known CSK (CSK rs34933034 and CSK rs1378942) and two functional PTPN22 (PTPN22 rs2476601 (R620W) and PTPN22 rs33996649 (R263Q)) polymorphisms, previously associated with autoimmunity, were genotyped with TaqMan single nucleotide polymorphism (SNP) genotyping assays., [Results] No significant differences in the genotype and allele frequencies between HSP patients and controls were observed when the CSK rs34933034, CSK rs1378942, PTPN22 rs2476601 (R620W) and PTPN22 rs33996649 (R263Q) polymorphisms were analyzed independently. In keeping with this observation, no significant differences were found when we assessed these polymorphisms combined conforming haplotypes. In addition, there were no differences in the allele or genotype frequencies when HSP patients were stratified according the age at disease onset, sex, presence of arthralgia/arthritis, nephritis or gastrointestinal manifestations., [Conclusions] Our results do not support association between PTPN22/CSK and HSP., This study was supported by a grant from “Fondo de Investigaciones Sanitarias” PI12/00193 (Spain). RLM is a recipient of a Sara Borrell postdoctoral fellowship from the Instituto de Salud Carlos III at the Spanish Ministry of Health (Spain) (CD12/00425). FG and BU are supported by funds from the RETICS Program (RIER) (RD12/0009/0013).

Published
2015

6. Association of HLA-B*41:02 with Henoch-Schönlein Purpura (IgA Vasculitis) in Spanish individuals irrespective of the HLA-DRB1 status

Author

Ana Márquez, Ricardo Blanco, José A. Miranda-Filloy, Trinitario Pina, Manuel León Luque, Raquel López-Mejías, Francisca González Escribano, Begoña Ubilla, Fernanda Genre, Norberto Ortego-Centeno, Eva Galíndez-Aguirregoikoa, Javier Llorca, J. M. Blanco-Madrigal, Belén Sevilla Pérez, Santos Castañeda, Marta Conde-Jaldón, Maximiliano Aragües, Diego de Argila, Miguel A. González-Gay, Verónica Mijares, E. Rubio, Antonio Navas Parejo, Javier Martín, Lourdes Ortiz-Fernández, Sara Remuzgo-Martínez, J. Gonzalo Ocejo-Vinyals, Vanesa Calvo-Río, Instituto de Salud Carlos III, Ministerio de Sanidad, Servicios Sociales e Igualdad (España), Red de Investigación en Inflamación y Enfermedades Reumáticas (España), [López-Mejías,R, Genre,F, Ubilla,B, Remuzgo-Martínez,S, Mijares,V, Pina,T, Calvo-Río,V, Blanco,R, González-Gay,MA] Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain. [Sevilla Pérez,B, Ortego-Centeno,N] Medicine Department, Hospital Universitario San Cecilio, Granada, Spain. [Castañeda,S] Rheumatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain. [Llorca,J] Epidemiology and Computational Biology Department, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain. [Márquez,A] Institute of Parasitology and Biomedicine López-Neyra (IPBLN-CSIC). Systemic Autoimmune Diseases Unit, Hospital Clínico San Cecilio, Granada, Spain. [Miranda-Filloy,JM] Division of Rheumatology, Hospital Universitario Lucus Augusti, Lugo, Spain. [Navas Parejo,A] Nephrology Department, Hospital Universitario San Cecilio, Granada, Spain. [Conde-Jaldón,M, Ortiz-Fernández,L, González Escribano,F] Immunology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Argila,D, Aragües,M] Dermatology Department, IIS-IP, Hospital de la Princesa, Madrid, Spain. [Rubio,E, León Luque,M] Rheumatology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Blanco-Madrigal,JM, and Galíndez-Aguirregoikoa,E] Rheumatology Department, Hospital Universitario de Basurto, Bilbao, Spain. [Ocejo-Vinyals,JG] Immunology Department, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Martín,J] Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain.

Subjects
Male, Henoch-Schonlein purpura, España, Adulto joven, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Preescolar, immune system diseases, hemic and lymphatic diseases, Immunology and Allergy, Masculino, Child, HLA-DRB1, Adolescente, Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Purpura, Schoenlein-Henoch, Cadenas HLA-DRB1, Antígenos HLA-B, Femenino, Predisposición genética a la enfermedad, HLA-B, Humanos, Purpura, Niño, Child, Preschool, Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Histocompatibility Antigens::HLA Antigens [Medical Subject Headings], Female, Estudios de seguimiento, medicine.symptom, Persons::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings], Vasculitis, Research Article, IgA Vasculitis, Adolescent, Immunology, Púrpura de Schoenlein-Henoch, Diseases::Immune System Diseases::Hypersensitivity::Immune Complex Diseases::Purpura, Schoenlein-Henoch [Medical Subject Headings], Check Tags::Male [Medical Subject Headings], Human leukocyte antigen, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Membrane Glycoproteins::Histocompatibility Antigens Class II::HLA-D Antigens::HLA-DR Antigens::HLA-DR beta-Chains::HLA-DRB1 Chains [Medical Subject Headings], Persons::Persons::Age Groups::Adolescent [Medical Subject Headings], Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [Medical Subject Headings], Young Adult, Rheumatology, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies::Follow-Up Studies [Medical Subject Headings], medicine, HLA-B Antigens, Humans, Persons::Persons::Age Groups::Child [Medical Subject Headings], Genetic Predisposition to Disease, Genetic Association Studies, Estudios de asociación genética, business.industry, medicine.disease, IgA vasculitis, Check Tags::Female [Medical Subject Headings], Spain, business, Persons::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings], Follow-Up Studies, HLA-DRB1 Chains
Abstract

López-Mejías, Raquel et al., [Introduction] A study was conducted to determine whether the human leukocyte antigen (HLA) B alleles are implicated in the susceptibility to Henoch-Schönlein purpura (HSP) in the largest series of Caucasian HSP patients ever assessed for genetic studies., [Methods] The study population was composed of 349 Spanish patients diagnosed with HSP fulfilling the American College of Rheumatology and the Michel et al. classification criteria, and 335 sex and ethnically matched controls. HLA-B phenotypes were determined by sequencing-based typing (SBT) and analyzed by chi-square or Fisher exact test., [Results] A statistically significant increase of HLA-B*41:02 allele in HSP patients when compared with controls was found (8.3% versus 1.5% respectively; P = 0.0001; OR (odds ratio) =5.76 [2.15-19.3]). These results remained statistically significant after adjusting for Bonferroni correction (P = 0.0028). An internal validation also confirmed the susceptibility effect on HSP associated with HLA-B*41:02 (OR = 5.70 [1.98-16.44]). Since a former study described an association between HLA-DRB1*01:03 and HSP susceptibility, we also evaluated the implication of HLA-B*41:02 independently of HLA-DRB1*01:03. Interestingly, the association remained statistically significant (P = 0.0004, OR = 4.97 [1.8-16.9]). No HLA-B association with specific HSP clinical features was found., [Conclusions] Our study indicates that HLA-B*41:02 is associated with the susceptibility to HSP in Spanish patients irrespective of HLA-DRB1 status., This study was supported by a grant from ‘Fondo de Investigaciones Sanitarias’ PI12/00193 (Spain). RLM is a recipient of a Sara Borrell postdoctoral fellowship from the Instituto de Salud Carlos III at the Spanish Ministry of Health (Spain) (CD12/00425). FG and BU are supported by funds from the RETICS Program (RIER) (RD12/0009/0013).

Published
2015

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