rs727088
This variant is located in the CD226 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
inflammatory bowel disease
▶Research that mentions this SNP (1)
▶A 3′‐untranslated region variant is associated with impaired expression of CD226 in T and natural killer T cells and is associated with susceptibility to systemic lupus erythematosusAssociationN=2,645Sara E. Löfgren et al.(2010)· Arthritis & Rheumatism
A case-control study of 1,163 SLE patients and 1,482 European controls identified a 3-SNP haplotype (rs763361; rs34794968; rs727088) in the 3'-UTR of CD226 associated with systemic lupus erythematosus (SLE), with the risk haplotype ATC conferring OR 1.24 (95% CI 1.11-1.38). The C allele of rs727088 was responsible for reduced CD226 expression in T and NKT cells, suggesting a functional regulatory role in SLE susceptibility.
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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