Multi-layered functional genomics prioritizes candidate effectors and regulatory mechanisms of ankylosing spondylitis
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By
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Fanyu Meng
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Ling Chen
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Meng Li
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Qingqing Zhang
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Peiying Wang
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Ruifeng Lin
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Jiani Liu
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Zhao Yuan
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Kexin Chen
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Zhaoxia Li
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Yetong Xie
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Abuduwahapu Aierken
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Furkat Yalkun
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Chulan Li
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Yuan Ma
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Jianhui Chen
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Ziwen Xu
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Fei Zhong
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June 1, 2026
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Clinical Scorecard: Prioritization of Candidate Effectors and Regulatory Pathways in Ankylosing Spondylitis Through Multi-layered Functional Genomics
At a Glance
| Category | Detail |
|---|
| Condition | Ankylosing Spondylitis (AS) |
| Key Mechanisms | Involvement of immune-related genes and regulatory pathways, particularly in the MHC region and associated with T helper 17 cell differentiation. |
| Target Population | Individuals with Ankylosing Spondylitis, primarily of European ancestry. |
| Care Setting | Research and clinical genetics. |
Key Highlights
- Identified 30 genome-wide significant loci with 26,178 significant variants.
- Prioritized 64 causal-candidate genes with gene expression explaining 19.5% of AS heritability.
- Demonstrated positive genetic correlations with inflammatory bowel disease and psoriasis.
- Utilized advanced computational models for gene perturbation and variant effect prediction.
Guideline-Based Recommendations
Diagnosis
- Utilize genetic testing for HLA-B*27 and other identified loci in suspected AS cases.
Management
- Consider immunomodulatory therapies targeting identified pathways.
Monitoring & Follow-up
- Regular assessment of disease progression and response to therapies.
Risks
- Increased risk of associated conditions such as inflammatory bowel disease and psoriasis.
Patient & Prescribing Data
Patients diagnosed with Ankylosing Spondylitis, particularly those with genetic predispositions.
Focus on therapies that target immune pathways implicated in AS pathogenesis.
Clinical Best Practices
- Integrate genetic and genomic data into clinical decision-making.
- Employ multi-omics approaches for comprehensive understanding of AS.
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