Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population

Abstract

The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.

Comorbidity profiles among patients with bullous pemphigoid: a nationwide population-based study

“…Bullous pemphigoid (BP) is a chronic debilitating autoimmune bullous disease in the elderly 1,2 . BP is a potentially fatal disease 3 and is associated with autoantibodies to the hemidesmosomal BP autoantigens BPAG1 and BPAG2.…”

A gene network bioinformatics analysis for pemphigoid autoimmune blistering diseases

“…Three homologous molecules were included into the IL-l family of cytokines: IL-1α and IL-1β, which exerted similar biological effects, and the IL-l receptor antagonist (IL-1RN), a natural antagonist that inhibited IL-1s activity. IL-1b and IL-1RN were released at the site of blister formation in patients suffering for bullous pemphigoid [29]; two polymorphisms for IL-1β were associated with the pemphigoids even if the results were not confirmed by further studies [30].…”

Identification of Quantitative Trait Loci in Experimental Epidermolysis Bullosa Acquisita

“…With the exception of an IL-1b polymorphism in female BP patients (Chang et al, 2006) and conflicting data on Fc gamma receptor polymorphisms in BP (Weisenseel et al, 2007;Guilabert et al, 2010), the contribution on non-MHC genes has not been reported in patients with ASBD or animal models for these diseases. The identified QTLs for EBA onset were found in chromosomes 9, 12, 15, and 19, while QTLs for the maximal disease score were linked to chromosomes 1, 6, and 19.…”

“…In addition, polymorphisms in the IL-1b gene have been reported in female patients with BP (Chang et al, 2006). However, these studies included relatively low numbers of patients.…”