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.

Mulinacci, G., Palermo, A., Gerussi, A., Asselta, R., Gershwin, M., Invernizzi, P. (2022). New insights on the role of human leukocyte antigen complex in primary biliary cholangitis. FRONTIERS IN IMMUNOLOGY, 13 [10.3389/fimmu.2022.975115].

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

Mulinacci G.;Palermo A.;Gerussi A.;Invernizzi P.
2022

Abstract

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.
Articolo in rivista - Review Essay
genetics; HLA haplotypes; human leukocyte antigens complex; immunotolerance; primary biliary cholangitis;
English
Mulinacci, G., Palermo, A., Gerussi, A., Asselta, R., Gershwin, M., Invernizzi, P. (2022). New insights on the role of human leukocyte antigen complex in primary biliary cholangitis. FRONTIERS IN IMMUNOLOGY, 13 [10.3389/fimmu.2022.975115].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/395919
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