rs144974719
This is a intron variant variant in the KDM6A 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 KDM6A
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
View all KDM6A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…