rs3093664

This is a regulatory region variant variant in the TNF 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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TNF polymorphisms and prostate cancer risk
AssociationN=627Kim N. Danforth et al.(2008)· The Prostate

This cross-sectional study of 627 unvaccinated COVID-19 patients examined associations between cytokine gene polymorphisms and COVID-19 severity. Five polymorphisms were significantly associated with severe disease: TNF-α rs1800610 A allele (OR=1.50), IL-6 rs1800796 C allele (OR=1.64), IL-10 rs1800871 T allele (OR=1.94), IL-10 rs1800872 A allele (OR=1.87), and CCL5 rs3817656 G allele (OR=1.64). IL-10 rs1800629 was protective against moderate and severe disease.

Traits studied:COVID-19 mortalityCOVID-19 severity
PubMedDOIMetascience Observatory

About TNF

This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, psoriasis, rheumatoid arthritis ankylosing spondylitis, tuberculosis, autosomal dominant polycystic kidney disease, and cancer. Mutations in this gene affect susceptibility to cerebral malaria, septic shock, and Alzheimer disease. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Aug 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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