rs1788097

This is a intron variant variant in the CD226 gene.

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GWAS Catalog Trait Associations (3)

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

sclerosing cholangitis

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 T
OR 1.19
p 7.0e-12
N 14,890
Large GWAS
European
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 T
OR 1.15
p 3.0e-8
N 28,868
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 T
OR 0.06
p 7.0e-9
N 14,890
Large GWAS
European

neutrophil count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.01
p 9.0e-11
N 432,666
Large GWAS
multi-ancestry

systemic lupus erythematosus

Yin X et al. “Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.” Annals of the Rheumatic Diseases 80(5):632-640 (2021)
Allele T
OR 1.10
p 6.0e-10
N 208,370
Meta-analysisLarge GWAS
East Asian
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Research that mentions this SNP (1)

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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

About CD226

This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

View all CD226 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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