Journal of Clinical Medicine (Sep 2022)
IgA Vasculitis: Influence of <i>CD40, BLK</i> and <i>BANK1</i> Gene Polymorphisms
- Joao Carlos Batista Liz,
- Fernanda Genre,
- Verónica Pulito-Cueto,
- Sara Remuzgo-Martínez,
- Diana Prieto-Peña,
- Ana Márquez,
- Norberto Ortego-Centeno,
- María Teresa Leonardo,
- Ana Peñalba,
- Javier Narváez,
- Luis Martín-Penagos,
- Lara Belmar-Vega,
- Cristina Gómez-Fernández,
- José A. Miranda-Filloy,
- Luis Caminal-Montero,
- Paz Collado,
- Diego De Árgila,
- Patricia Quiroga-Colina,
- Esther F. Vicente-Rabaneda,
- Ana Triguero-Martínez,
- Esteban Rubio,
- Manuel León Luque,
- Juan María Blanco-Madrigal,
- Eva Galíndez-Agirregoikoa,
- Javier Martín,
- Oreste Gualillo,
- Ricardo Blanco,
- Santos Castañeda,
- Miguel A. González-Gay,
- Raquel López-Mejías
Affiliations
- Joao Carlos Batista Liz
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- Fernanda Genre
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- Verónica Pulito-Cueto
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- Sara Remuzgo-Martínez
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- Diana Prieto-Peña
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- Ana Márquez
- Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, PTS Granada, 18016 Granada, Spain
- Norberto Ortego-Centeno
- Department of Medicine, Universidad de Granada, 18071 Granada, Spain
- María Teresa Leonardo
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- Ana Peñalba
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- Javier Narváez
- Division of Rheumatology, Hospital Universitario de Bellvitge, 08907 Barcelona, Spain
- Luis Martín-Penagos
- Division of Nephrology, Hospital Universitario Marqués de Valdecilla, IDIVAL-REDINREN, 39008 Santander, Spain
- Lara Belmar-Vega
- Division of Nephrology, Hospital Universitario Marqués de Valdecilla, IDIVAL-REDINREN, 39008 Santander, Spain
- Cristina Gómez-Fernández
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- José A. Miranda-Filloy
- Division of Rheumatology, Hospital Universitario Lucus Augusti, 27003 Lugo, Spain
- Luis Caminal-Montero
- Internal Medicine Department, Hospital Universitario Central de Asturias, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain
- Paz Collado
- Division of Rheumatology, Hospital Universitario Severo Ochoa, 28911 Madrid, Spain
- Diego De Árgila
- Division of Dermatology, Hospital Universitario de La Princesa, 28006 Madrid, Spain
- Patricia Quiroga-Colina
- Division of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, 28006 Madrid, Spain
- Esther F. Vicente-Rabaneda
- Division of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, 28006 Madrid, Spain
- Ana Triguero-Martínez
- Division of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, 28006 Madrid, Spain
- Esteban Rubio
- Department of Rheumatology, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain
- Manuel León Luque
- Department of Rheumatology, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain
- Juan María Blanco-Madrigal
- Division of Rheumatology, Hospital Universitario de Basurto, 48013 Bilbao, Spain
- Eva Galíndez-Agirregoikoa
- Division of Rheumatology, Hospital Universitario de Basurto, 48013 Bilbao, Spain
- Javier Martín
- Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, PTS Granada, 18016 Granada, Spain
- Oreste Gualillo
- SERGAS (Servizo Galego de Saude) and IDIS (Instituto de Investigación Sanitaria de Santiago), NEIRID Lab (Neuroendocrine Interactions in Rheumatology and Inflammatory Diseases), Research Laboratory 9, Hospital Clínico Universitario de Santiago, 15706 Santiago de Compostela, Spain
- Ricardo Blanco
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- Santos Castañeda
- Division of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, 28006 Madrid, Spain
- Miguel A. González-Gay
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- Raquel López-Mejías
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain
- DOI
- https://doi.org/10.3390/jcm11195577
- Journal volume & issue
-
Vol. 11,
no. 19
p. 5577
Abstract
CD40, BLK and BANK1 genes involved in the development and signaling of B-cells are identified as susceptibility loci for numerous inflammatory diseases. Accordingly, we assessed the potential influence of CD40, BLK and BANK1 on the pathogenesis of immunoglobulin-A vasculitis (IgAV), predominantly a B-lymphocyte inflammatory condition. Three genetic variants within CD40 (rs1883832, rs1535045, rs4813003) and BLK (rs2254546, rs2736340, rs2618476) as well as two BANK1 polymorphisms (rs10516487, rs3733197), previously associated with inflammatory diseases, were genotyped in 382 Caucasian patients with IgAV and 955 sex- and ethnically matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of CD40, BLK and BANK1 when IgAV patients and healthy controls were compared. Similar results were found when CD40, BLK and BANK1 genotypes or alleles frequencies were compared between patients with IgAV stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. Moreover, no CD40, BLK and BANK1 haplotype differences were disclosed between patients with IgAV and healthy controls and between patients with IgAV stratified according to the clinical characteristics mentioned above. Our findings indicate that CD40, BLK and BANK1 do not contribute to the genetic background of IgAV.
Keywords