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A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis

Abstract: 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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Sci Rep. 2017 Jul 11;7(1):5088

Editorial: Nature Publishing Group

 Fecha de publicación: 11/07/2017

Nº de páginas: 6

Tipo de publicación: Artículo de Revista

 DOI: 10.1038/s41598-017-03915-2

ISSN: 2045-2322

Autores/as

LÓPEZ MEJÍAS, RAQUEL

CARMONA, F. DAVID

CASTAÑEDA, SANTOS

FERNANDA GENRE

REMUZGO MARTÍNEZ, SARA

SEVILLA PÉREZ, BELÉN

ORTEGO CENTENO, NORBERTO

BEGOÑA UBILLA GARCIA

VERONICA MIJARES DIAZ

PINA MURCIA, TRINITARIO

MIRANDA FILLOY, JOSÉ A.

NAVAS PAREJO, ANTONIO

ARGILA, DIEGO DE

ARAGÜES, MAXIMILIANO

RUBIO, ESTEBAN

LEÓN LUQUE, MANUEL

BLANCO MADRIGAL, JUAN MARÍA

RICARDO BLANCO ALONSO