rs3809728
This variant is located in the MAP2K4 gene.
▶Research that mentions this SNP (1)
▶The association between −1304T>G polymorphism in the promoter of MKK4 gene and the risk of sporadic colorectal cancer in southern Chinese populationAssociationN=1,429Yisheng Wei et al.(2009)· International Journal of Cancer
This hospital-based case-control study of 706 sporadic colorectal cancer cases and 723 controls in a southern Chinese population found that the MKK4 -1304T>G polymorphism (rs3826392) was significantly associated with decreased colorectal cancer risk. Carriers of the -1304TG genotype had OR=0.56 (95% CI 0.44-0.72) and -1304GG carriers had OR=0.40 (95% CI 0.23-0.70) compared to -1304TT, with a significant allele dose effect (p=2.64×10⁻⁷). The protective effect was more pronounced in subjects over 60 years (OR=0.41) and ever drinkers (OR=0.41), with significant gene-age and gene-alcohol interactions. Western blotting showed that -1304G variant carriers had significantly higher MKK4 protein expression in tumor tissues.
About MAP2K4
This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
View all MAP2K4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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