Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?

Autor: Batista-Liz JC; Immunopathology Group, Rheumatology Department, Hospital Universitario Marqués de Valdecilla-IDIVAL, 39011 Santander, Spain., Calvo-Río V; Immunopathology Group, Rheumatology Department, Hospital Universitario Marqués de Valdecilla-IDIVAL, 39011 Santander, Spain., Sebastián Mora-Gil M; Immunopathology Group, Rheumatology Department, Hospital Universitario Marqués de Valdecilla-IDIVAL, 39011 Santander, Spain., Sevilla-Pérez B; Division of Paediatrics, Hospital Universitario San Cecilio, 18016 Granada, Spain., Márquez A; Instituto de Parasitología y Biomedicina 'López-Neyra', CSIC, PTS Granada, 18016 Granada, Spain., Leonardo MT; Division of Paediatrics, Hospital Universitario Marqués de Valdecilla, 39008 Santander, Spain., Peñalba A; Division of Paediatrics, Hospital Universitario Marqués de Valdecilla, 39008 Santander, Spain., Carmona FD; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, 18071 Granada, Spain.; Instituto de Investigación Biosanitaria ibs. Granada, 18012 Granada, Spain., Narvaez J; Division of Rheumatology, Hospital Universitario de Bellvitge, 08907 Barcelona, Spain., Martín-Penagos L; Immunopathology Group, Division of Nephrology, Hospital Universitario Marqués de Valdecilla-IDIVAL, 39011 Santander, Spain., Belmar-Vega L; Immunopathology Group, Division of Nephrology, Hospital Universitario Marqués de Valdecilla-IDIVAL, 39011 Santander, Spain., Gómez-Fernández C; Division of Dermatology, Hospital Universitario Marqués de Valdecilla, 39008 Santander, Spain., Caminal-Montero L; Internal Medicine Department, Hospital Universitario Central de Asturias, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain., Collado P; Division of Rheumatology, Hospital Universitario Severo Ochoa, 28911 Madrid, Spain., Quiroga-Colina P; Division of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, 28006 Madrid, Spain., Uriarte-Ecenarro M; Division of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, 28006 Madrid, Spain., Rubio E; Department of Rheumatology, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain., Luque ML; Department of Rheumatology, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain., Blanco-Madrigal JM; Division of Rheumatology, Hospital Universitario de Basurto, 48013 Bilbao, Spain., Galíndez-Agirregoikoa E; Division of Rheumatology, Hospital Universitario de Basurto, 48013 Bilbao, Spain., Martín J; Instituto de Parasitología y Biomedicina 'López-Neyra', CSIC, PTS Granada, 18016 Granada, Spain., Castañeda S; Division of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, 28006 Madrid, Spain., González-Gay MA; Department of Rheumatology, IIS-Fundación Jiménez Díaz, 28040 Madrid, Spain.; School of Medicine, Universidad de Cantabria, 39011 Santander, Spain., Blanco R; Immunopathology Group, Rheumatology Department, Hospital Universitario Marqués de Valdecilla-IDIVAL, 39011 Santander, Spain., Pulito-Cueto V; Immunopathology Group, Rheumatology Department, Hospital Universitario Marqués de Valdecilla-IDIVAL, 39011 Santander, Spain., López-Mejías R; Immunopathology Group, Rheumatology Department, Hospital Universitario Marqués de Valdecilla-IDIVAL, 39011 Santander, Spain.
Jazyk: angličtina
Zdroj: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 22; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 22.
DOI: 10.3390/ijms241713063
Abstrakt: ITGAM-ITGAX (rs11150612, rs11574637), VAV3 rs17019602, CARD9 rs4077515, DEFA (rs2738048, rs10086568), and HORMAD2 rs2412971 are mucosal immune defence polymorphisms, that have an impact on IgA production, described as risk loci for IgA nephropathy (IgAN). Since IgAN and Immunoglobulin-A vasculitis (IgAV) share molecular mechanisms, with the aberrant deposit of IgA1 being the main pathophysiologic feature of both entities, we assessed the potential influence of the seven abovementioned polymorphisms on IgAV pathogenesis. These seven variants were genotyped in 381 Caucasian IgAV patients and 997 matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of these seven polymorphisms when the whole cohort of IgAV patients and those with nephritis were compared to controls. Similar genotype and allele frequencies of all polymorphisms were disclosed when IgAV patients were stratified according to the age at disease onset or the presence/absence of gastrointestinal or renal manifestations. Likewise, no ITGAM-ITGAX and DEFA haplotype differences were observed when the whole cohort of IgAV patients, along with those with nephritis and controls, as well as IgAV patients, stratified according to the abovementioned clinical characteristics, were compared. Our results suggest that mucosal immune defence polymorphisms do not represent novel genetic risk factors for IgAV pathogenesis.
Databáze: MEDLINE
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