rs7848647

This is a upstream gene variant variant in the TNFSF15 gene.

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GWAS Catalog Trait Associations (1)

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

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Research that mentions this SNP (1)

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TNFSF15 is an ethnic-specific IBD gene
AssociationN=1,211Yoana Picornell et al.(2007)· Inflammatory Bowel Diseases

TNFSF15 is confirmed as an IBD susceptibility gene showing ethnic-specific associations in a Caucasian population. The protective Haplotype B (OR=0.64, p=0.01 in CD; OR=0.59, p=0.01 in UC) was significantly associated with disease protection in non-Jewish controls but showed opposite frequency trends in Jewish populations (p=0.04 for gene-ethnicity interaction in CD), demonstrating disease susceptibility is ethnically determined.

Traits studied:Crohn's Disease (CD)Inflammatory Bowel Disease (IBD)Ulcerative Colitis (UC)
PubMedDOIMetascience Observatory

About TNFSF15

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

View all TNFSF15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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