rs11772832

This is a intron variant variant in the CNOT4 gene.

GWAS Catalog Trait Associations (1)

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

substance-related disorder

Allele T
OR 8.36
p 6.0e-17
N 1,517,369
Large GWAS
multi-ancestry

Research that mentions this SNP (1)

Genetic variants in noncoding PIWI‐interacting RNA and colorectal cancer risk
AssociationN=280Haiyan Chu et al.(2015)· Cancer

This PhD thesis investigated pharmacogenetics of microRNAs and immune system genes in locally advanced rectal cancer (LARC) patients treated with neoadjuvant chemoradiotherapy. In 265 LARC patients, five SNPs were identified as predictive biomarkers of pathological response: DROSHA-rs10719 (OR=1.87, p=0.0274) and SMAD3-rs17228212 (OR=2.01, p=0.0049) were unfavorable, while SMAD3-rs744910 (OR=0.45, p=0.0153), SMAD3-rs745103 (OR=0.48, p=0.0471), and TRBP-rs6088619 (OR=0.39, p=0.0125) were protective. In 235 LARC patients, three prognostic biomarkers for 2-year disease-free survival were identified: IL17F-rs641701 (HR=3.23, p=0.003), IL17F-rs9463772 (HR=2.89, p=0.002), and STAT3-rs8069645 (HR=0.50, p=0.044).

Traits studied:Chemoradiotherapy responseDisease-free survivalLocally advanced rectal cancerOverall survivalPathological complete responseTumour regression grade

About CNOT4

The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]

View all CNOT4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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