rs10865331

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GWAS Catalog Trait Associations (4)

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

ankylosing spondylitis

Evans DM et al. “Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.” Nature Genetics 43(8):761-767 (2011)
Allele A
OR —
p 7.0e-34
N 11,802
Large GWAS
European
Reveille JD et al. “Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.” Nature Genetics 42(2):123-7 (2010)
Allele A
OR 1.27
p 2.0e-19
N 7,193
Large GWAS
European

psoriasis vulgaris

Stuart PE et al. “Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.” American Journal of Human Genetics 97(6):816-36 (2015)
Allele A
OR 1.16
p 9.0e-12
N 8,941
Large GWAS
European

Crohn's disease

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele A
OR 1.08
p 4.0e-10
N 20,883
Large GWAS
multi-ancestry
Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele A
OR 1.10
p 1.0e-9
N 34,366
Large GWAS
European

psoriasis

Tsoi LC et al. “Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.” Nature Genetics 44(12):1341-8 (2012)
Allele A
OR 1.12
p 5.0e-10
N 33,394
Large GWAS
European
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Research that mentions this SNP (3)

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Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?
AssociationN=502Joshi R. et al.(2012)· Arthritis Care &amp; Research

This association study compared genetic susceptibility loci frequencies between 312 familial and 190 sporadic ankylosing spondylitis (AS) cases. HLA-B27 was significantly more prevalent in familial cases (OR: 5.41, p=8.4×10⁻⁸), while non-MHC susceptibility variants in IL23R, IL1R2, ANTXR2, ERAP1, and intergenic regions on chromosomes 2p15 and 21q22 showed no significant differences between familial and sporadic cases.

Traits studied:Ankylosing spondylitisFamilial aggregation of AS
PubMedDOIMetascience Observatory
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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
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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies
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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