Table 1 Six novel loci associated with clonality from discovery GWAS and meta-analyses with p < 5 × 10− 6â€
From: Germline genetic regulation of the colorectal tumor immune microenvironment
RS ID: CHR: BP | Nearest Gene | Locus | EFF/REF Allele* | Discovery Data (MECC) | Replication Data (CLX) | Replication Data (CRCGEN) | Meta Analysis | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EAF** | OR (95% CI)*** | p | EAF | OR (95% CI) | p | EAF | OR (95% CI) | p | EAF | OR (95% CI) | p | PHeterogeneity | ||||
rs4918567:10:112459918 | RBM20 | 10q25.2 | T/C | 0.10 | 0.76 (0.69–0.84) | 3.73E-08 | 0.19 | 0.90 (0.64–1.27) | 0.5609 | 0.13 | 0.88 (0.63–1.24) | 0.4594 | 0.21 | 0.78 (0.71–0.85) | 4.90E-08 | 0.5029 |
rs34245610:18:56234676 | ALPK2 | 18q21.32 | T/C | 0.81 | 1.20 (1.11–1.29) | 9.46E-07 | 0.84 | 1.23 (0.83–1.83) | 0.3049 | 0.82 | 1.15 (0.86–1.53) | 0.3403 | 0.81 | 1.19 (1.12–1.28) | 3.62E-07 | 0.9552 |
rs4443313:4:79040704 | FRAS1 | 4q21.21 | A/G | 0.77 | 0.83 (0.78–0.89) | 5.26E-08 | 0.71 | 0.83 (0.60–1.15) | 0.2639 | 0.70 | 1.10 (0.88–1.38) | 0.3820 | 0.76 | 0.85 (0.80–0.90) | 3.75E-07 | 0.0548 |
rs18450843:6:106628943 | ATG5 | 6q21 | A/G | 0.01 | 2.14 (1.57–2.91) | 1.50E-06 | 0.01 | 1.44 (0.20-10.26) | 0.7196 | 1.00 | 9.47 (0.99–90.78) | 0.0531 | 0.01 | 2.17 (1.61–2.94) | 4.97E-07 | 0.4043 |
rs76250771:2:155371283 | AC009227.3 | 2q24.1 | T/C | 0.15 | 0.83 (0.77–0.90) | 4.75E-06 | 0.08 | 0.81 (0.49–1.33) | 0.4007 | 0.07 | 0.72 (0.47–1.11) | 0.1367 | 0.15 | 0.83 (0.76–0.89) | 1.31E-06 | 0.8111 |
rs7874748:9:35978632 | YBX1P10 | 9p13.3 | T/C | 0.29 | 1.16 (1.09–1.23) | 2.51E-06 | 0.34 | 1.12 (0.82–1.52) | 0.4788 | 0.31 | 1.05 (0.84–1.32) | 0.6530 | 0.33 | 1.15 (1.09–1.22) | 2.49E-06 | 0.7057 |