Multi-layered functional genomics prioritizes candidate effectors and regulatory mechanisms of ankylosing spondylitis

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Ankylosing spondylitis (AS) has a heritability of approximately 90%, with the HLA-B*27 allele being the most significant risk factor.
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A GWAS meta-analysis identified 30 genome-wide significant loci and 26,178 significant variants associated with AS.
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Causal transcriptome-wide association studies (cTWAS) prioritized 64 candidate genes, explaining 19.5% of AS heritability.
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Functional studies using siRNA knockdown in Jurkat T cells provided evidence for the roles of TBKBP1 and XCL1 in AS.
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The study emphasizes the need for integrating statistical and experimental approaches to identify AS candidate genes and regulatory variants.

Frontiers In Immunology

by Fanyu Meng, Ling Chen, Meng Li, Qingqing Zhang, Peiying Wang, Ruifeng Lin, Jiani Liu, Zhao Yuan, Kexin Chen, Zhaoxia Li, Yetong Xie, Abuduwahapu Aierken, Furkat Yalkun, Chulan Li, Yuan Ma, Jianhui Chen, Ziwen Xu, Fei Zhong
June 1, 2026

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