rs7426056

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GWAS Catalog Trait Associations (4)

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

sclerosing cholangitis

Liu JZ et al. “Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.” Nature Genetics 45(6):670-5 (2013)
Allele A
OR 1.30
p 2.0e-20
N 28,868
Large GWAS
European
Ji SG et al. “Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.” Nature Genetics 49(2):269-273 (2017)
Allele A
OR 1.25
p 2.0e-16
N 14,890
Large GWAS
European
Han Y et al. “Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.” Nature Communications 14(1):1069 (2023)
Allele A
OR 0.08
p 6.0e-10
N 14,890
Large GWAS
European

autoimmune disease

Márquez A et al. “Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.” Genome Medicine 10(1):97 (2018)
Allele A
OR —
p 7.0e-12
N 59,468
Meta-analysisLarge GWAS
European

celiac disease

Márquez A et al. “Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.” Genome Medicine 10(1):97 (2018)
Allele A
OR 1.15
p 2.0e-11
N 33,797
Meta-analysisLarge GWAS
European

rheumatoid arthritis

Márquez A et al. “Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.” Genome Medicine 10(1):97 (2018)
Allele A
OR 1.11
p 1.0e-8
N 37,831
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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Genome-Wide Association Analysis in Primary Sclerosing Cholangitis And Ulcerative Colitis Identifies Risk Loci at Gpr35 And Tcf4
AssociationN=28,868David Ellinghaus et al.(2013)· Hepatology

This dense genotyping study identified 12 genome-wide significant susceptibility loci for primary sclerosing cholangitis (PSC) outside the HLA complex in 3,789 European PSC cases and 25,079 controls using the Immunochip array. Nine loci were novel, including rs7426056 (CD28; OR=1.30), rs3197999 (MST1; OR=1.33), rs13140464 (IL2/IL21; OR=1.30), rs56258221 (BACH2; OR=1.23), and rs2836883 (PSMG1; OR=1.28). The study found overlapping yet distinct genetic architecture between PSC and inflammatory bowel disease, with PSC being genetically more similar to ulcerative colitis than Crohn's disease.

Traits studied:Inflammatory bowel diseasePrimary sclerosing cholangitis
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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