Abstract
Ankylosing spondylitis (AS) is a common, highly heritable inflammatory arthritis affecting the mainly axial joints in both East Asia and Europe. To date, the pathogenesis of AS is still unknown, although we know that genetics play a vital role in it. The HLA-B27 allele is found in over 85% of AS patients. However, strong evidence suggests that other major histocompatibility complex (MHC) and non-MHC genes are also involved in the pathogenesis. In addition, current data showed that there were significant differences in both genomics and metagenomics among the different ethnic populations. The investigation of the key role of the microbiome in AS pathogenesis also highlighted the host–microbiome genetic interactions. Here, we systematically review current AS genetic research data and further compare genetic differences, especially between East Asian and European groups, which may highlight the challenge in future genetic studies.
Highlights
Ankylosing spondylitis (AS) is one of the commonest rheumatic diseases in both Asia and Europe
While the human leukocyte antigen (HLA)-B27 allele is found in over 85% of patients (Caffrey and James, 1973), there is strong evidence indicating that other major histocompatibility complex (MHC) and non-MHC genes jointly play roles in the pathogenesis of the disease
The observed genetic heterogeneity across divergent populations at several risk loci is by differences in allele frequencies, linkage disequilibrium patterns, effect sizes of associated polymorphisms, or a combination of these factors (International Genetics of Ankylosing Spondylitis Consortium et al, 2013)
Summary
Ankylosing spondylitis (AS) is a common, highly heritable inflammatory arthritis affecting the mainly axial joints in both East Asia and Europe. The pathogenesis of AS is still unknown, we know that genetics play a vital role in it. Strong evidence suggests that other major histocompatibility complex (MHC) and non-MHC genes are involved in the pathogenesis. Current data showed that there were significant differences in both genomics and metagenomics among the different ethnic populations. The investigation of the key role of the microbiome in AS pathogenesis highlighted the host–microbiome genetic interactions. We systematically review current AS genetic research data and further compare genetic differences, especially between East Asian and European groups, which may highlight the challenge in future genetic studies
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
