rs11657063

This is a regulatory region variant variant in the KDM6B gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (1)

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EZH2 genetic variants affect risk of gastric cancer in the Chinese Han population
AssociationN=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.

Traits studied:Diffuse-type gastric cancerGastric cancer susceptibilityIntestinal-type gastric cancer
PubMedDOIMetascience Observatory

About KDM6B

The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

View all KDM6B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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