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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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Autores principales: Mulinacci, Giacomo, Palermo, Andrea, Gerussi, Alessio, Asselta, Rosanna, Gershwin, Merrill Eric, Invernizzi, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471323/
https://www.ncbi.nlm.nih.gov/pubmed/36119102
http://dx.doi.org/10.3389/fimmu.2022.975115
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author Mulinacci, Giacomo
Palermo, Andrea
Gerussi, Alessio
Asselta, Rosanna
Gershwin, Merrill Eric
Invernizzi, Pietro
author_facet Mulinacci, Giacomo
Palermo, Andrea
Gerussi, Alessio
Asselta, Rosanna
Gershwin, Merrill Eric
Invernizzi, Pietro
author_sort Mulinacci, Giacomo
collection PubMed
description 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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spelling pubmed-94713232022-09-15 New insights on the role of human leukocyte antigen complex in primary biliary cholangitis Mulinacci, Giacomo Palermo, Andrea Gerussi, Alessio Asselta, Rosanna Gershwin, Merrill Eric Invernizzi, Pietro Front Immunol Immunology 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. Frontiers Media S.A. 2022-08-31 /pmc/articles/PMC9471323/ /pubmed/36119102 http://dx.doi.org/10.3389/fimmu.2022.975115 Text en Copyright © 2022 Mulinacci, Palermo, Gerussi, Asselta, Gershwin and Invernizzi https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Mulinacci, Giacomo
Palermo, Andrea
Gerussi, Alessio
Asselta, Rosanna
Gershwin, Merrill Eric
Invernizzi, Pietro
New insights on the role of human leukocyte antigen complex in primary biliary cholangitis
title New insights on the role of human leukocyte antigen complex in primary biliary cholangitis
title_full New insights on the role of human leukocyte antigen complex in primary biliary cholangitis
title_fullStr New insights on the role of human leukocyte antigen complex in primary biliary cholangitis
title_full_unstemmed New insights on the role of human leukocyte antigen complex in primary biliary cholangitis
title_short New insights on the role of human leukocyte antigen complex in primary biliary cholangitis
title_sort new insights on the role of human leukocyte antigen complex in primary biliary cholangitis
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471323/
https://www.ncbi.nlm.nih.gov/pubmed/36119102
http://dx.doi.org/10.3389/fimmu.2022.975115
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