HLA-DRB1∗16 and -DQB1∗05 alleles are strongly associated with autoimmune pancreatitis in a cohort of hundred patients.


Journal

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
ISSN: 1424-3911
Titre abrégé: Pancreatology
Pays: Switzerland
ID NLM: 100966936

Informations de publication

Date de publication:
May 2022
Historique:
received: 03 12 2021
revised: 18 03 2022
accepted: 19 03 2022
pubmed: 6 4 2022
medline: 12 5 2022
entrez: 5 4 2022
Statut: ppublish

Résumé

Autoimmune diseases are often associated with human leukocyte antigen (HLA) haplotypes, indicating that changes in major histocompatibility complex (MHC)-dependent self-peptide or antigen presentation contribute to autoimmunity. In our study, we aimed to investigate HLA alleles in a large European cohort of autoimmune pancreatitis (AIP) patients. Hundred patients with AIP, diagnosed and classified according to the International Consensus Diagnostic Criteria (ICDC), were prospectively enrolled in the study. Forty-four patients with chronic pancreatitis (CP) and 254 healthy subjects served as control groups. DNA was isolated from blood samples and two-digit HLA typing was performed with sequence-specific primer (SSP-) PCR. HLA allele association strength to AIP was calculated as odds ratio. We uncovered a strong enrichment of HLA-DQB1 homozygosity in type 1 and type 2 AIP patients. Moreover, a significantly increased incidence of the HLA-DRB1∗16 and HLA-DQB1∗05 alleles and a concomitant lack of the HLA-DRB1∗13 allele was detected in AIP type 1 and type 2 patients. In contrast, the HLA-DQB1∗02 allele was underrepresented in the 'not otherwise specified' (NOS) AIP subtype. We detected no significant difference in the HLA-DRB3, HLA-DRB4 and HLA-DRB5 allele frequency in our cohort. Although AIP type 1 and type 2 are characterized by distinct histopathological characteristics, both subtypes are associated with the same HLA alleles, indicating that the disease might rely on similar immunogenic mechanisms. However, AIP NOS represented another subclass of AIP.

Sections du résumé

BACKGROUND/OBJECTIVES OBJECTIVE
Autoimmune diseases are often associated with human leukocyte antigen (HLA) haplotypes, indicating that changes in major histocompatibility complex (MHC)-dependent self-peptide or antigen presentation contribute to autoimmunity. In our study, we aimed to investigate HLA alleles in a large European cohort of autoimmune pancreatitis (AIP) patients.
METHODS METHODS
Hundred patients with AIP, diagnosed and classified according to the International Consensus Diagnostic Criteria (ICDC), were prospectively enrolled in the study. Forty-four patients with chronic pancreatitis (CP) and 254 healthy subjects served as control groups. DNA was isolated from blood samples and two-digit HLA typing was performed with sequence-specific primer (SSP-) PCR. HLA allele association strength to AIP was calculated as odds ratio.
RESULTS RESULTS
We uncovered a strong enrichment of HLA-DQB1 homozygosity in type 1 and type 2 AIP patients. Moreover, a significantly increased incidence of the HLA-DRB1∗16 and HLA-DQB1∗05 alleles and a concomitant lack of the HLA-DRB1∗13 allele was detected in AIP type 1 and type 2 patients. In contrast, the HLA-DQB1∗02 allele was underrepresented in the 'not otherwise specified' (NOS) AIP subtype. We detected no significant difference in the HLA-DRB3, HLA-DRB4 and HLA-DRB5 allele frequency in our cohort.
CONCLUSIONS CONCLUSIONS
Although AIP type 1 and type 2 are characterized by distinct histopathological characteristics, both subtypes are associated with the same HLA alleles, indicating that the disease might rely on similar immunogenic mechanisms. However, AIP NOS represented another subclass of AIP.

Identifiants

pubmed: 35379557
pii: S1424-3903(22)00104-1
doi: 10.1016/j.pan.2022.03.015
pii:
doi:

Substances chimiques

HLA-DRB1 Chains 0
HLA-DRB4 Chains 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

466-471

Informations de copyright

Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Auteurs

Elisabetta Goni (E)

Department of Medicine II, University Hospital, LMU, Munich, Germany.

Ivonne Regel (I)

Department of Medicine II, University Hospital, LMU, Munich, Germany. Electronic address: ivonne.regel@med.uni-muenchen.de.

Ujjwal Mukund Mahajan (UM)

Department of Medicine II, University Hospital, LMU, Munich, Germany.

Antonio Amodio (A)

Department of Medicine, Pancreas Center, University of Verona, Verona, Italy.

Giulia De Marchi (G)

Department of Medicine, Pancreas Center, University of Verona, Verona, Italy.

Georg Beyer (G)

Department of Medicine II, University Hospital, LMU, Munich, Germany.

Raffaella Alessia Zuppardo (RA)

Gastroenterology and Gastrointestinal Endoscopy, Division of Experimental Oncology, Vita-Salute San Raffaele University, Milan, Italy.

Milena Di Leo (M)

Gastroenterology and Gastrointestinal Endoscopy, Division of Experimental Oncology, Vita-Salute San Raffaele University, Milan, Italy.

Marco Lanzillotta (M)

Unit of Immunology, Rheumatology, Allergy and Rare Diseases, uniRAR, IRCCS San Raffaele Scientific Institute, Milan, Italy.

Francesco Bonatti (F)

Department of Medicine and Surgery, Medical Genetics Unit, University of Parma, Italy.

Teresa Kauke (T)

Division of Transfusion Medicine, Cellular Therapeutics and Hemostaseology, University Clinic LMU, Munich, Germany.

Andrea Dick (A)

Division of Transfusion Medicine, Cellular Therapeutics and Hemostaseology, University Clinic LMU, Munich, Germany.

Frank Ulrich Weiss (FU)

Department of Medicine A, University Medicine Greifswald, Greifswald, Germany.

Ulf Schönermarck (U)

Department of Medicine IV, University Hospital, LMU, Munich, Germany.

Markus M Lerch (MM)

Department of Medicine A, University Medicine Greifswald, Greifswald, Germany.

Luca Frulloni (L)

Department of Medicine, Pancreas Center, University of Verona, Verona, Italy.

Giulia Martina Cavestro (GM)

Gastroenterology and Gastrointestinal Endoscopy, Division of Experimental Oncology, Vita-Salute San Raffaele University, Milan, Italy.

Julia Mayerle (J)

Department of Medicine II, University Hospital, LMU, Munich, Germany.

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