rs1380576

This is a regulatory region variant variant in the MDM4 gene.

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Research that mentions this SNP (2)

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Modifying effect of MDM4 variants on risk of HPV16‐associated squamous cell carcinoma of oropharynx
AssociationN=715Hongping Yu et al.(2012)· Cancer

This case-control study of 380 SCCHN cases and 335 controls examined three MDM4 tagging SNPs (rs11801299, rs10900598, rs1380576) for association with HPV16-related squamous cell carcinoma of the oropharynx (SCCOP). While no main effects were found overall, MDM4 variants modified HPV16-associated SCCOP risk, particularly in never smokers and never drinkers, with ORs ranging from 4.4 to 43.0 in stratified analyses.

Traits studied:HPV16-associated cancerSquamous cell carcinoma of head and neckSquamous cell carcinoma of the oropharynx
PubMedDOIMetascience Observatory
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Combined p53‐related genetic variants together with HPV infection increase oral cancer risk
AssociationN=660Zhongqiu Wang et al.(2012)· International Journal of Cancer

Case-control study (325 cases, 335 controls) examining seven polymorphisms in p53-related genes (p53 codon 72 Arg/Pro, p73 4/14 GC/AT, MDM2 A2164G and T2580G, MDM4 rs11801299, rs10900598, rs1380576) and HPV16 seropositivity for oral cancer risk. Combined risk genotypes with HPV16 seropositivity showed substantially increased oral cancer risk (OR 2.1-19.1), with strongest effects in younger subjects, never-smokers, and oropharyngeal cancer patients.

Traits studied:HPV16-associated oral cancerOral cancerOropharyngeal cancer
PubMedDOIMetascience Observatory

About MDM4

This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]

View all MDM4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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