rs652625
This is a upstream gene variant variant in the TNFRSF1B gene.
▶Research that mentions this SNP (1)
▶Polymorphisms of the tumor necrosis factor-alpha receptor 2 gene are associated with obesity phenotypes among 405 Caucasian nuclear familiesAssociationN=1,873Lan-Juan Zhao et al.(2008)· Human Genetics
This candidate gene study of 1,873 Caucasian subjects from 405 nuclear families examined 12 SNPs in the TNFR2 gene for associations with obesity phenotypes. SNP9 (rs5746059) showed significant association with fat mass (P=0.0002), BMI (P=0.002), and percentage fat mass (P=0.0006), explaining 6.24% and 7.82% of variation in fat mass and PFM respectively. Individuals carrying allele A had 4.6% higher fat mass and 2.5% increased PFM compared to noncarriers. Results remained significant after multiple testing corrections and were supported by replication in 700 Chinese Han and 1,000 independent Caucasian samples.
About TNFRSF1B
The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]
View all TNFRSF1B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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