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Fifty years after the discovery of the association of HLA B27 with ankylosing spondylitis

The human lymphocyte antigen B27 (HLA B27) is a member of the HLA class I family of genes in the major histocompatibility complex whose name goes back to its discovery in studies of transplanted tissue compatibility. Its prevalence in the mid-European population is about 8%. The association of HLA B...

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Autores principales: Braun, Juergen, Sieper, Joachim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476136/
https://www.ncbi.nlm.nih.gov/pubmed/37652557
http://dx.doi.org/10.1136/rmdopen-2023-003102
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author Braun, Juergen
Sieper, Joachim
author_facet Braun, Juergen
Sieper, Joachim
author_sort Braun, Juergen
collection PubMed
description The human lymphocyte antigen B27 (HLA B27) is a member of the HLA class I family of genes in the major histocompatibility complex whose name goes back to its discovery in studies of transplanted tissue compatibility. Its prevalence in the mid-European population is about 8%. The association of HLA B27 alleles with ankylosing spondylitis (AS), a highly heritable disease, which is part of the spectrum of axial spondyloarthritis (axSpA), was discovered 50 years ago. HLA B27 explains less than 30% of the total genetic load. About 60%–90% of axSpA patients worldwide carry HLA B27. The prevalence of the disease is linked to the frequency of HLA B27 in the population which implies that there are relevant differences. Among the roughly 200 subtypes known there are two which are not disease associated. The function of HLA class I molecules is to present peptides to the immune system to defend the organism against microbes targeted by CD8+T cells. This is much supported by the role of the endoplasmic reticulum aminopeptidase 1 (ERAP 1) in AS, an enzyme that is responsible for the intracellular trimming of peptides, since polymorphisms of this gene are only associated with HLA-B27+ disease. The arthritogenic peptide hypothesis trying to explain the pathogenesis of AS is based on that very immune function assuming that also self peptides can be presented. HLA-B27 also plays an important role in classification, diagnosis and severitiy of axSpA.
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spelling pubmed-104761362023-09-05 Fifty years after the discovery of the association of HLA B27 with ankylosing spondylitis Braun, Juergen Sieper, Joachim RMD Open Spondyloarthritis The human lymphocyte antigen B27 (HLA B27) is a member of the HLA class I family of genes in the major histocompatibility complex whose name goes back to its discovery in studies of transplanted tissue compatibility. Its prevalence in the mid-European population is about 8%. The association of HLA B27 alleles with ankylosing spondylitis (AS), a highly heritable disease, which is part of the spectrum of axial spondyloarthritis (axSpA), was discovered 50 years ago. HLA B27 explains less than 30% of the total genetic load. About 60%–90% of axSpA patients worldwide carry HLA B27. The prevalence of the disease is linked to the frequency of HLA B27 in the population which implies that there are relevant differences. Among the roughly 200 subtypes known there are two which are not disease associated. The function of HLA class I molecules is to present peptides to the immune system to defend the organism against microbes targeted by CD8+T cells. This is much supported by the role of the endoplasmic reticulum aminopeptidase 1 (ERAP 1) in AS, an enzyme that is responsible for the intracellular trimming of peptides, since polymorphisms of this gene are only associated with HLA-B27+ disease. The arthritogenic peptide hypothesis trying to explain the pathogenesis of AS is based on that very immune function assuming that also self peptides can be presented. HLA-B27 also plays an important role in classification, diagnosis and severitiy of axSpA. BMJ Publishing Group 2023-08-31 /pmc/articles/PMC10476136/ /pubmed/37652557 http://dx.doi.org/10.1136/rmdopen-2023-003102 Text en © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) .
spellingShingle Spondyloarthritis
Braun, Juergen
Sieper, Joachim
Fifty years after the discovery of the association of HLA B27 with ankylosing spondylitis
title Fifty years after the discovery of the association of HLA B27 with ankylosing spondylitis
title_full Fifty years after the discovery of the association of HLA B27 with ankylosing spondylitis
title_fullStr Fifty years after the discovery of the association of HLA B27 with ankylosing spondylitis
title_full_unstemmed Fifty years after the discovery of the association of HLA B27 with ankylosing spondylitis
title_short Fifty years after the discovery of the association of HLA B27 with ankylosing spondylitis
title_sort fifty years after the discovery of the association of hla b27 with ankylosing spondylitis
topic Spondyloarthritis
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476136/
https://www.ncbi.nlm.nih.gov/pubmed/37652557
http://dx.doi.org/10.1136/rmdopen-2023-003102
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