rs5952279

This variant is located in the KDM6A gene.

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GWAS Catalog Trait Associations (1)

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

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele A
OR 0.01
p 1.0e-10
N 368,929
Large GWAS
European
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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 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.

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