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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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. |
format | Online Article Text |
id | pubmed-9471323 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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