New insights on the role of human leukocyte antigen complex in primary biliary cholangitis

Primary Biliary Cholangitis (PBC) is a rare autoimmune cholangiopathy. Genetic studies have shown that the strongest statistical association with PBC has been mapped in the human leukocyte antigen (HLA) locus, a highly polymorphic area that mostly contribute to the genetic variance of the disease. F...

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Bibliographic Details
Published inFrontiers in immunology Vol. 13; p. 975115
Main Authors Mulinacci, Giacomo, Palermo, Andrea, Gerussi, Alessio, Asselta, Rosanna, Gershwin, Merrill Eric, Invernizzi, Pietro
Format Journal Article
LanguageEnglish
Published Frontiers Media S.A 31.08.2022
Subjects
genetics
HLA haplotypes
human leukocyte antigens complex
Immunology
immunotolerance
primary biliary cholangitis
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Summary:Primary Biliary Cholangitis (PBC) is a rare autoimmune cholangiopathy. Genetic studies have shown that the strongest statistical association with PBC has been mapped in the human leukocyte antigen (HLA) locus, a highly polymorphic area that mostly contribute to the genetic variance of the disease. Furthermore, PBC presents high variability throughout different population groups, which may explain the different geoepidemiology of the disease. A major role in defining HLA genetic contribution has been given by genome-wide association studies (GWAS) studies; more recently, new technologies have been developed to allow a deeper understanding. The study of the altered peptides transcribed by genetic alterations also allowed the development of novel therapeutic strategies in the context of immunotolerance. This review summarizes what is known about the immunogenetics of PBC with a focus on the HLA locus, the different distribution of HLA alleles worldwide, and how HLA modifications are associated with the pathogenesis of PBC. Novel therapeutic strategies are also outlined.
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Edited by: Nanda Kerkar, University of Rochester, United States
Reviewed by: Dimitrios Petrou Bogdanos, University of Thessaly, Greece; John Vierling, Baylor College of Medicine, United States
These authors share first authorship
This article was submitted to Autoimmune and Autoinflammatory Disorders, a section of the journal Frontiers in Immunology
ISSN:1664-3224
1664-3224
DOI:10.3389/fimmu.2022.975115