rs734004
This is a intron variant variant in the EZH2 gene.
▶Research that mentions this SNP (1)
▶EZH2 genetic variants affect risk of gastric cancer in the Chinese Han populationAssociationN=2,349Yuan Zhou et al.(2012)· Molecular Carcinogenesis
This case-control study of 2,349 Korean participants (1,100 gastric cancer patients, 1,249 controls) identified associations between SNPs in three H3K27me modifier genes (EZH2, KDM6A, KDM6B) and gastric cancer susceptibility. Individual associations were found for KDM6A rs5952279 (P=1.0×10⁻⁴, OR=0.64), KDM6A rs144974719 (P=2.4×10⁻⁴, OR=2.23), KDM6B rs78633955 (P=1.9×10⁻³, OR=1.33), and EZH2 rs67648693 (P=0.0028, OR=0.81). Furthermore, synergistic epistasis was demonstrated among gene pairs, notably EZH2 rs58579167 × KDM6A rs5952279 (ORint=3.2, P=0.00066), forming a synergistic triad network.
About EZH2
This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
View all EZH2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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