rs4647992
This is a intron variant variant in the NFKB1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Influence of a critical single nucleotide polymorphism on nuclear receptor PXR‐promoter functionAssociationN=746Manjul Rana et al.(2017)· Cell Biology International
Case-control study of 746 Han Chinese tuberculosis patients (118 with anti-tuberculosis drug-induced liver injury [ATDILI], 628 without) genotyped for 9 SNPs in PXR and NFKB1. The T allele of rs3814055 in PXR was associated with decreased ATDILI risk (OR 0.61; 95% CI 0.42-0.89, p=0.0098), while T alleles of rs78872571 and rs4647992 in NFKB1 were associated with increased ATDILI risk (OR 1.91, p=0.028 and OR 1.81, p=0.029, respectively). This was the first study to report associations between these genetic variants and ATDILI susceptibility in a Han Chinese population.
▶Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controlsAssociationN=21,152Darren R. Brenner et al.(2013)· Human Genetics
Two-stage GWAS of 10,140 lung cancer cases and 11,012 controls in inflammation pathways using hierarchical modeling identified one novel locus at rs2741354 in EPHX2 (p=7.4×10⁻⁶), and confirmed associations with TERT (rs2736100) and HLA region variants. Hierarchical modeling incorporating prior biological knowledge identified 32 replicated variants not captured by conventional maximum likelihood analysis.
About NFKB1
This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020]
View all NFKB1 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…