rs4648011
This is a intron variant variant in the NFKB1 gene.
▶Research that mentions this SNP (1)
▶Association of a functional polymorphism of PTPN22 encoding a lymphoid protein phosphatase in bilateral Meniere's diseaseAssociationN=2,344Jose A. Lopez‐Escamez et al.(2010)· The Laryngoscope
Case-control study of 716 Meniere's disease patients and 1,628 controls using ImmunoChip genotyping identified intronic variants rs3774937 (C allele) and rs4648011 (G allele) in the NFKB1 gene associated with faster hearing loss progression in patients with unilateral sensorineural hearing loss (corrected p=0.009 and p=0.003, respectively). These variants reduced median time to reach hearing stage 3 (≥40 dB) by approximately 2 years. No single variants reached genome-wide significance for MD susceptibility, and these NFKB1 variants did not influence hearing in bilateral MD.
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.
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