rs4552569

This is a upstream gene variant variant.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

ankylosing spondylitis

Lin Z et al. “A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.” Nature Genetics 44(1):73-7 (2011)
Allele C
OR 1.21
p 9.0e-10
N 6,068
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis
AssociationN=1,939Maksymowych WP et al.(2009)· Arthritis &amp; Rheumatism

This case-control study of 735 Han Chinese ankylosing spondylitis (AS) patients and 1,204 healthy controls found no association between rs4552569 and rs17095830 polymorphisms and AS susceptibility, contradicting a prior GWAS finding. However, rs17095830 showed significant association with inflammatory bowel disease as an AS complication (P=0.0180, OR=1.739, 95% CI=1.146–2.639), and rs30187 (ERAP1) was associated with disease severity measured by BASDAI.

Traits studied:Ankylosing spondylitisInflammatory bowel disease
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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