@article{10902/30593,
year = {2023},
url = {https://hdl.handle.net/10902/30593},
abstract = {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.},
organization = {Funding: This research was funded by European Union FEDER funds and “Fondo de Investigaciones Sanitarias” from “Instituto de Salud Carlos III” (ISCIII, Health Ministry, Spain), grant numbers PI18/00042 and PI21/00042. J.C.B.-L. is a recipient of a PFIS program fellowship from the ISCIII, co-funded by the European Social Fund (‘Investing in your future’), grant number FI22/00020. M.S.M.-G. is supported by funds of “Fondo de Investigaciones Sanitarias” from ISCIII, grant number PI121/00042. R.L.-M. is a recipient of a Miguel Servet type II program fellowship from the ISCIII, co-funded by ESF (“Investing in your future”), grant number CPII21/00004.
Acknowledgments: We wish to thank all the subjects for their essential collaboration in this study. We also thank the National DNA Bank Repository (Salamanca) for supplying the control samples.},
publisher = {International Journal of Molecular Sciences, 2023, 24, 13063},
title = {Mucosal immune defence gene polymorphisms as relevant players in the pathogenesis of IgA vasculitis?},
author = {Batista-Liz, Joao Carlos and Calvo del Río, Vanesa and Sebastián Mora-Gil, María and Sevilla-Pérez, Belén and Márquez, Ana and Leonardo Cabello, María Teresa and Peñalba Citores, Ana Cristina and Carmona, Fancisco David and Narváez, Javier and Martín Penagos, Luis and Belmar Vega, Lara and Gómez Fernández, Cristina and Caminal-Montero, Luis and Collado, Paz and Quiroga-Colina, Patricia and Uriarte-Ecenarro, Miren and Rubio, Esteban and González-Gay Mantecón, Miguel Ángel and Blanco Alonso, Ricardo},
}