Synergy of endoplasmic reticulum aminopeptidase 1 and 2 (ERAP1 and ERAP2) polymorphisms in atopic dermatitis: Effects on disease prevalence.
Adolescent
Adult
Aminopeptidases
/ genetics
Case-Control Studies
Child
Child, Preschool
Dermatitis, Atopic
/ diagnosis
Female
Genetic Predisposition to Disease
Histocompatibility Antigens Class I
/ metabolism
Humans
Male
Middle Aged
Minor Histocompatibility Antigens
/ genetics
Odds Ratio
Polymorphism, Single Nucleotide
/ immunology
Prevalence
Risk Factors
Severity of Illness Index
Young Adult
Atopic dermatitis
ERAP1-ERAP2 interaction
Endoplasmic reticulum aminopeptidases
Genetics
Single nucleotide polymorphisms
Journal
Human immunology
ISSN: 1879-1166
Titre abrégé: Hum Immunol
Pays: United States
ID NLM: 8010936
Informations de publication
Date de publication:
Feb 2021
Feb 2021
Historique:
received:
07
09
2020
revised:
16
11
2020
accepted:
19
11
2020
pubmed:
15
12
2020
medline:
5
10
2021
entrez:
14
12
2020
Statut:
ppublish
Résumé
Endoplasmic reticulum aminopeptidases ERAP1 and ERAP2 trim peptides to a length of 8-10 amino acids optimal for binding by HLA class I molecules. Although these two enzymes may work separately, but they may also form a heterodimer of enhanced trimming efficiency. We have earlier described a role for ERAP1 single nucleotide polymorphism rs26618 and HLA-C*05:01 as risk factors for atopic dermatitis (AD). Here, we examined whether ERAP2 single nucleotide polymorphism rs2248374, determining the presence or absence of the functional form of enzyme, would influence the rs26618 effect. Out of nine rs2248374 - rs26618 genotypic combinations, only one, rs2248374*A/A - rs26618*C/C, was associated with a risk of AD. Interestingly, the odds ratio increased from 1.10 (CI95%: 0.72; 1.69; p = 0.657) for ERAP2 rs2248374*A/A and 1.88 (CI95%: 1.07; 3.28; p = 0.025) for ERAP1 rs26618*C/C to 3.36 (CI95%: 1.41; 8.01; p = 0.004) for their combination, therefore revealing a synergistic effect.
Identifiants
pubmed: 33309189
pii: S0198-8859(20)30432-8
doi: 10.1016/j.humimm.2020.11.004
pii:
doi:
Substances chimiques
Histocompatibility Antigens Class I
0
Minor Histocompatibility Antigens
0
Aminopeptidases
EC 3.4.11.-
ERAP1 protein, human
EC 3.4.11.-
ERAP2 protein, human
EC 3.4.11.-
Types de publication
Journal Article
Observational Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
121-123Informations de copyright
Copyright © 2020 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.