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. 2023 Mar 16;32(12):2093–2102. doi: 10.1093/hmg/ddad044

Table 1.

Three novel cross-cancer pleiotropic variants were identified to associated with colorectal cancer risk

SNP Chr Region Located gene Effect/ref allele Discovery stage Validation stage Reported cancer P -pleiotropy a
OR (95% CI) P-value b FDR b OR (95% CI) P-value c FDR c
rs9277378 6 6p21.32 HLA-DPB1 G/A 0.92 (0.88 to 0.95) 7.86 × 10−6 0.010 0.95 (0.92–0.98) 0.002 0.011 Lymphoma 8.31 × 10−12
rs2230469 10 10p12.2 PIP4K2A C/T 1.07 (1.04 to 1.10) 9.70 × 10−6 0.010 1.04 (1.01–1.08) 0.009 0.022 Leukemia 1.01 × 10−4
rs143190905 20 20q13.33 RTEL1 T/G 0.89 (0.83 to 0.94) 5.37 × 10−5 0.020 0.94 (0.89–0.99) 0.023 0.038 Cutaneous melanoma 2.95 × 10−6

aThe Ppleiotropy was derived from the pleiotropy analysis via PLACO utilizing GWAS summary data of CRC and each of the reported cancers.

bThe P-value and FDR were derived from the CRC GWAS meta-analysis.

cThe P-value and FDR were derived from the validation analysis in UK Biobank population.