Journal article
From the genetics of ankylosing spondylitis to new biology and drug target discovery
- Abstract:
- Genome-wide association studies (GWAS) have identified 113 single nucleotide polymorphisms (SNPs) affecting the risk of developing ankylosing spondylitis (AS), and an on-going GWAS study will likely identify 100+ new risk loci. The translation of genetic findings to novel disease biology and treatments has been difficult due to the following challenges: 1) difficulties in determining the causal genes regulated by disease-associated SNPs, 2) difficulties in determining the relevant cell-type(s) that causal genes exhibit their function(s), 3) difficulties in determining appropriate cellular contexts to interrogate the functional role of causal genes in disease biology. This review will discuss recent progress and unanswered questions with a focus on these challenges. Additionally, we will review the investigation of biology and the development of drugs related to the IL-23/IL-17 pathway, which has been partially driven by the AS genetics, and discuss what can be learned from these studies for the future functional and translational study of AS-associated genes.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 716.1KB, Terms of use)
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- Publisher copy:
- 10.3389/fimmu.2021.624632
Authors
- Publisher:
- Frontiers Media
- Journal:
- Frontiers in Immunology More from this journal
- Volume:
- 12
- Article number:
- 624632
- Publication date:
- 2021-02-17
- Acceptance date:
- 2021-01-22
- DOI:
- ISSN:
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1664-3224
- Language:
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English
- Keywords:
- Pubs id:
-
1158845
- Local pid:
-
pubs:1158845
- Deposit date:
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2021-01-27
- ARK identifier:
Terms of use
- Copyright holder:
- Zaarour et al.
- Copyright date:
- 2021
- Rights statement:
- ©2021 The Authors. 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.
- Licence:
- CC Attribution (CC BY)
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