Expressive

rs10808556 - CASC8, POU5F1B, PCAT1, CCAT2

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer. - Journal of human genetics (2022) · Hikino K, Koido M, Otomo N, Tomizuka K, Ikegawa S, Matsuda K, Momozawa Y, Mushiroda T, Terao C · PubMed 34671089

    No genome-wide association studies (GWAS) were reported for colorectal polyps and the overlap in polygenic backgrounds conferring risk of colorectal cancer and polyps remains unclear. We performed GWAS on subjects with colorectal polyps using the BioBank Japan data with 4447 cases and 157,226 controls. We evaluated genetic correlations between colorectal polyps and cancer, and effects on colorectal polyps of single nucleotide polymorphisms (SNPs) known to be associated with colorectal cancer. We identified CUX2, a known genetic locus to colorectal cancer, as a susceptibility locus to colorectal polyps (p value = 1.1 × 10 ). Subsequent fine-mapping analysis indicated that rs11065828 in CUX2 is the causal variant for colorectal polyps. We found that known colorectal cancer-susceptib

  • Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer - Unknown journal (n.d.) · Unknown authors · PubMed 38408508

    ABSTRACT: Background The incidence of early-onset colorectal cancer (EOCRC; diagnosed <50 years of age) is rising globally; however, the causes underlying this trend are largely unknown. CRC has strong genetic and environmental determinants, yet common genetic variants and causal modifiable risk factors underlying EOCRC are unknown. We conducted the first EOCRC-specific genome-wide association study (GWAS) and Mendelian randomization (MR) analyses to explore germline genetic and causal modifiable risk factors associated with EOCRC. Patients and methods We conducted a GWAS meta-analysis of 6176 EOCRC cases and 65 829 controls from the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), the Colorectal Transdisciplinary Study (CORECT), the Colon Cancer Family Registry (CCFR), a

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