RT Journal Article
T1 A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis.
A1 López-Mejías, Raquel
A1 Carmona, F David
A1 Castañeda, Santos
A1 Genre, Fernanda
A1 Remuzgo-Martínez, Sara
A1 Sevilla-Perez, Belén
A1 Ortego-Centeno, Norberto
A1 Llorca, Javier
A1 Ubilla, Begoña
A1 Mijares, Verónica
A1 Pina, Trinitario
A1 Miranda-Filloy, José A
A1 Navas Parejo, Antonio
A1 de Argila, Diego
A1 Aragües, Maximiliano
A1 Rubio, Esteban
A1 Luque, Manuel León
A1 Blanco-Madrigal, Juan María
A1 Galíndez-Aguirregoikoa, Eva
A1 Jayne, David
A1 Blanco, Ricardo
A1 Martín, Javier
A1 González-Gay, Miguel A
AB The genetic component of Immunoglobulin-A (IgA) vasculitis is still far to be elucidated. To increase the current knowledge on the genetic component of this vasculitis we performed the first genome-wide association study (GWAS) on this condition. 308 IgA vasculitis patients and 1,018 healthy controls from Spain were genotyped by Illumina HumanCore BeadChips. Imputation of GWAS data was performed using the 1000 Genomes Project Phase III dataset as reference panel. After quality control filters and GWAS imputation, 285 patients and 1,006 controls remained in the datasets and were included in further analysis. Additionally, the human leukocyte antigen (HLA) region was comprehensively studied by imputing classical alleles and polymorphic amino acid positions. A linkage disequilibrium block of polymorphisms located in the HLA class II region surpassed the genome-wide level of significance (OR = 0.56, 95% CI = 0.46-0.68). Although no polymorphic amino acid positions were associated at the genome-wide level of significance, P-values of potential relevance were observed for the positions 13 and 11 of HLA-DRB1 (P = 6.67E-05, P = 1.88E-05, respectively). Outside the HLA, potential associations were detected, but none of them were close to the statistical significance. In conclusion, our study suggests that IgA vasculitis is an archetypal HLA class II disease.
YR 2017
FD 2017-07-11
LK http://hdl.handle.net/10668/11394
UL http://hdl.handle.net/10668/11394
LA en
DS RISalud
RD Apr 6, 2025