rs11064437 - SPSB2

Magnitude 2.2 · 1 study on file

Reported associations

  • Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk - Unknown journal (n.d.) · Unknown authors · PubMed 26965516

    ABSTRACT: Background & Aims Known Genetic factors explain only a small fraction of genetic variation in colorectal cancer (CRC). We conducted a genome-wide association study (GWAS) to identify risk loci for CRC. Methods This discovery stage included 8027 cases and 22577 controls of East-Asian ancestry. Promising variants were evaluated in studies including as many as 11044 cases and 12047 controls. Tumor-adjacent normal tissues from 188 patients were analyzed to evaluate correlations of risk variants with expression levels of nearby genes. Potential functionality of risk variants were evaluated using public genomic and epigenomic databases. Results We identified 4 loci associated with CRC risk; P values for the most significant variant in each locus ranged from 3.92×10−8 to 1.24×10−1


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Colorectal cancer screening timing and strategy Moderate

    Variant rs11064437 in SPSB2 is associated with increased colorectal cancer risk (OR=1.12, p=4.00e-11). SPSB2 encodes an E3 ubiquitin ligase regulating protein degradation pathways implicated in cancer regulation.

    Review personal and family cancer history; discuss screening timeline and frequency considering genetic and environmental risk factors