rs1598861

This variant is located in the NFKB1 gene.

▶

Research that mentions this SNP (1)

▶
Influence of a critical single nucleotide polymorphism on nuclear receptor PXR‐promoter function
AssociationN=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.

Traits studied:Anti-tuberculosis drug-induced liver injury (ATDILI)
PubMedDOIMetascience Observatory

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…