Interaction between functional polymorphisms in FCER1A and TLR2 and the severity of atopic dermatitis

Daniel P Potaczek; Aleksandra Przytulska-Szczerbik; Stanisława Bazan-Socha; Magdalena Nastałek; Anna Wojas-Pelc; Ko Okumura; Chiharu Nishiyama; Artur Jurczyszyn; Anetta Undas; Ewa Wypasek

doi:10.1016/j.humimm.2020.08.002

Interaction between functional polymorphisms in FCER1A and TLR2 and the severity of atopic dermatitis

Hum Immunol. 2020 Dec;81(12):709-713. doi: 10.1016/j.humimm.2020.08.002. Epub 2020 Sep 1.

Affiliations

¹ Institute of Laboratory Medicine and Pathobiochemistry, Universities of Giessen and Marburg Lung Center (UGMLC), German Center for Lung Research (DZL), Philipps University Marburg, Marburg, Germany; Krakow Center for Medical Research and Technology, John Paul II Hospital, Krakow, Poland.
² Krakow Center for Medical Research and Technology, John Paul II Hospital, Krakow, Poland.
³ Department of Internal Medicine, Jagiellonian University Medical College, Krakow, Poland.
⁴ Faculty of Rehabilitation, University of Physical Education in Krakow, Poland.
⁵ Department of Dermatology, Jagiellonian University Medical College, Krakow, Poland.
⁶ Atopy Research Center, Juntendo University School of Medicine, Tokyo, Japan.
⁷ Laboratory of Molecular Biology and Immunology, Department of Biological Science and Technology, Tokyo University of Science, Tokyo, Japan.
⁸ Department of Hematology, Jagiellonian University Medical College, Krakow, Poland.
⁹ Krakow Center for Medical Research and Technology, John Paul II Hospital, Krakow, Poland; Institute of Cardiology, Jagiellonian University Medical College, Krakow, Poland.
¹⁰ Krakow Center for Medical Research and Technology, John Paul II Hospital, Krakow, Poland; Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, Krakow, Poland. Electronic address: e.wypasek@szpitaljp2.krakow.pl.

PMID: 32883546
DOI: 10.1016/j.humimm.2020.08.002

Abstract

Dendritic cell toll-like receptors (TLRs) and the high-affinity immunoglobulin E (IgE) receptor (FcεRI) may biologically interact with regard to atopic dermatitis (AD) development and, especially, severity. Our aim here was to test if such interaction can be detected on the genetic level. The combined effect of the TLR2 gene (TLR2) rs4696480 and the FcεRI α-chain gene (FCER1A) rs2252226 and rs2251746 polymorphisms on the AD severity as measured by SCORAD was assessed. The FCER1A rs2252226 and TLR2 rs4696480 polymorphisms interacted with regard to SCORAD. Higher SCORAD was observed in patients being the TLR2 rs4696480 major homozygotes and carrying at the same time the FCER1A rs2252226 minor allele, compared to those characterized by (any other of) the remaining combined rs2252226 and rs4696480 genotypes. The observation of the epistatic effect of TLR2 and FCER1A genetic variants on SCORAD is in line with the involvement of the interaction TLRs-FcεRI in the pathophysiology of AD.

Keywords: Atopic dermatitis; Disease severity; FCER1A; SCORAD; TLR2.

MeSH terms

Adult
Alleles
Case-Control Studies
Dermatitis, Atopic / blood
Dermatitis, Atopic / epidemiology
Dermatitis, Atopic / genetics*
Dermatitis, Atopic / physiopathology
Female
Genetic Predisposition to Disease / genetics
Genotype
Humans
Immunoglobulin E / blood
Male
Poland / epidemiology
Polymorphism, Single Nucleotide*
Promoter Regions, Genetic
Receptors, IgE / genetics*
Severity of Illness Index*
Toll-Like Receptor 2 / genetics*

Substances

FCER1A protein, human
Receptors, IgE
TLR2 protein, human
Toll-Like Receptor 2
Immunoglobulin E