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Genetics and the axial spondyloarthritis spectrum

The axial SpAs (axSpAs) are clearly clinically a heterogeneous set of diseases with markedly varying extra-articular features. These diseases are all highly heritable and have overlapping but differing genetic origins. Shared features include association with HLA class I alleles and genes of the IL-...

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Autores principales: Brown, Matthew A, Xu, Huji, Li, Zhixiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7566537/
https://www.ncbi.nlm.nih.gov/pubmed/33053195
http://dx.doi.org/10.1093/rheumatology/keaa464
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author Brown, Matthew A
Xu, Huji
Li, Zhixiu
author_facet Brown, Matthew A
Xu, Huji
Li, Zhixiu
author_sort Brown, Matthew A
collection PubMed
description The axial SpAs (axSpAs) are clearly clinically a heterogeneous set of diseases with markedly varying extra-articular features. These diseases are all highly heritable and have overlapping but differing genetic origins. Shared features include association with HLA class I alleles and genes of the IL-23 pathway, among other things. Significant differences do exist however, both in the genetic loci involved and at specific loci in the individual genetic variants associated with each disease. These similarities and differences are of great interest in regards to disease pathogenesis and treatment development, although individually they are too small in effect to be of prognostic or diagnostic value. Polygenic risk scores, which capture a high proportion of the genetic variation between disorders, have been shown to have clinically useful discriminatory capacity in axSpA. This suggests they have the potential to enable improved disease classification, incorporating basic pathogenic features such as genomics, and ultimately benefitting clinical care. The aim of this article is to review the genetic characteristics of the spectrum of axSpAs and to discuss how this influences our understanding of the disease pathogenesis and the clinical implications of this understanding.
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spelling pubmed-75665372020-10-21 Genetics and the axial spondyloarthritis spectrum Brown, Matthew A Xu, Huji Li, Zhixiu Rheumatology (Oxford) Supplement Papers The axial SpAs (axSpAs) are clearly clinically a heterogeneous set of diseases with markedly varying extra-articular features. These diseases are all highly heritable and have overlapping but differing genetic origins. Shared features include association with HLA class I alleles and genes of the IL-23 pathway, among other things. Significant differences do exist however, both in the genetic loci involved and at specific loci in the individual genetic variants associated with each disease. These similarities and differences are of great interest in regards to disease pathogenesis and treatment development, although individually they are too small in effect to be of prognostic or diagnostic value. Polygenic risk scores, which capture a high proportion of the genetic variation between disorders, have been shown to have clinically useful discriminatory capacity in axSpA. This suggests they have the potential to enable improved disease classification, incorporating basic pathogenic features such as genomics, and ultimately benefitting clinical care. The aim of this article is to review the genetic characteristics of the spectrum of axSpAs and to discuss how this influences our understanding of the disease pathogenesis and the clinical implications of this understanding. Oxford University Press 2020-10-14 /pmc/articles/PMC7566537/ /pubmed/33053195 http://dx.doi.org/10.1093/rheumatology/keaa464 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of the British Society for Rheumatology. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Supplement Papers
Brown, Matthew A
Xu, Huji
Li, Zhixiu
Genetics and the axial spondyloarthritis spectrum
title Genetics and the axial spondyloarthritis spectrum
title_full Genetics and the axial spondyloarthritis spectrum
title_fullStr Genetics and the axial spondyloarthritis spectrum
title_full_unstemmed Genetics and the axial spondyloarthritis spectrum
title_short Genetics and the axial spondyloarthritis spectrum
title_sort genetics and the axial spondyloarthritis spectrum
topic Supplement Papers
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7566537/
https://www.ncbi.nlm.nih.gov/pubmed/33053195
http://dx.doi.org/10.1093/rheumatology/keaa464
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