rs9594782
This is a intron variant variant in the TNFSF11 gene.
▶Research that mentions this SNP (2)
▶Polymorphisms in genes in the RANKL/RANK/OPG pathway are associated with bone mineral density at different skeletal sites in post-menopausal womenAssociationN=874Tu P. et al.(2015)· Osteoporosis International
A cross-sectional study of 881 postmenopausal Chinese women examined associations between 22 SNPs in the RANKL/RANK/OPG pathway genes (TNFSF11, TNFRSF11A, TNFRSF11B) and bone mineral density (BMD). Two TNFSF11 SNPs (rs2277439 and rs2324851; p=0.014, 0.013) and one TNFRSF11A SNP (rs7239261; p=0.047) were significantly associated with femoral neck BMD. A haplotype in TNFSF11 was a genetic risk factor for lower femoral neck BMD (beta=-0.1473; p=0.011), while another was protective for lumbar spine BMD (beta=0.3923; p=0.049).
▶Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in menAssociationN=1,120Yi-Hsiang Hsu et al.(2006)· Human Genetics
A population-based association study of 1,120 participants examined polymorphisms in RANKL (TNFSF11), RANK (TNFRSF11A), and OPG (TNFRSF11B) genes for association with bone mineral density (BMD) in men. The rs9594782 variant in RANKL showed a 2.1-fold increased risk of low hip BMD (p=0.004), while the Ala192Val variant in RANK was associated with 40% reduced risk (p<0.01), and the A163G variant in OPG with 70% reduced risk (p<0.05). Associations were significant in men but not women.
About TNFSF11
This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]
View all TNFSF11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…