Variation in genes implicated in B-cell maturation and antibody production affects susceptibility to pemphigus.

Variation in genes implicated in B-cell maturation and antibody production affects susceptibility to pemphigus. Immunology. 2020 Sep 14;: Authors: Calonga-Solís V, Amorim LM, Farias TDJ, Luiza Petzl-Erler M, Malheiros D, Augusto DG Abstract Pemphigus foliaceus (PF) is an autoimmune blistering skin disease characterized by the presence of pathogenic autoantibodies against desmoglein 1, a component of intercellular desmosome junctions. PF occurs sporadically across the globe and is endemic in some Brazilian regions. Because PF is a B-cell-mediated disease, we aimed to study the impact of variants within genes encoding molecules involved in the different steps of B-cell development and antibody production on the susceptibility of endemic PF. We analyzed 3,336 single nucleotide polymorphisms (SNPs) from 167 candidate genes genotyped with Illumina microarray in a cohort of 227 PF patients and 193 controls. After quality control and exclusion of non-informative and redundant SNPs, 607 variants in 149 genes remained in the logistic regression analysis, in which sex and ancestry were included as covariates. Our results revealed 10 SNPs within or nearby 11 genes that were associated with susceptibility to endemic PF (OR > 1.56; p < 0.005): rs6657275*G (TGFB2); rs1818545*A (RAG1/RAG2/IFTAP); rs10781530*A (PAXX), rs10870140*G and rs10781522*A (TRAF2); rs535068*A (TNFRSF1B); rs324011*A (STAT6); rs6432018*C (YWHAQ); rs17149161*C (YWHAG...
Source: Immunology - Category: Allergy & Immunology Authors: Tags: Immunology Source Type: research