Table 1 BCC susceptibility novel loci that replicated at P < 0.05 in 23andMe cohort
rsID | Locus | CHR | BP | EA | NEA | EAF | log (OR) | SE | P value | Nearest gene(s) | eQTL gene (skin) | eQTL gene P value |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
rs12142181 | 2 | 1 | 41,912,985 | T | C | 0.08 | −0.092 | 0.015 | 2.86E-09 | EDN2 (−31kb) |FOXO6 ( + 63 kb) | EDN2** | 6.26E-05 |
rs2369633 | 7 | 1 | 205,181,062 | C | T | 0.10 | −0.100 | 0.015 | 9.81E-12 | DSTYK ( + 0.33 kb) | CNTN2 | 4.96E-06 |
rs2111485 | 13 | 2 | 163,110,536 | G | A | 0.40 | −0.052 | 0.009 | 3.46E-09 | FAP ( + 10 kb) |IFIH1 (−13 kb) | – | – |
rs2373232 | 16 | 3 | 46,444,383 | A | G | 0.32 | −0.050 | 0.009 | 4.77E-08 | CCRL2 (−4 kb) |CCR5 ( + 26 kb) | CCR2/CCR5 | 8.61E-6/7.88E-9 |
rs9878566 | 19 | 3 | 156,493,213 | T | C | 0.48 | 0.048 | 0.009 | 2.36E-08 | LINC00886 (0) | LINC00886 | 1.56E-24 |
rs6889986 | 24 | 5 | 90,207,399 | A | G | 0.44 | −0.054 | 0.009 | 5.44E-10 | GPR98 (0) | – | – |
rs706779 | 47 | 10 | 6,098,824 | C | T | 0.48 | 0.058 | 0.009 | 1.43E-11 | IL2RA (0) | FHIT (eQTL Gen) | 8.16E-07 |
rs7098111 | 51 | 10 | 119,573,178 | T | C | 0.15 | −0.080 | 0.012 | 6.19E-12 | RAB11FIP2 (−191 kb) | – | – |
rs10766301 | 52 | 11 | 16,217,413 | T | C | 0.38 | 0.054 | 0.009 | 2.93E-10 | SOX6 (0) | – | 6.15E-11 |
rs174570 | 53 | 11 | 61,597,212 | T | C | 0.16 | −0.081 | 0.013 | 2.67E-10 | FADS2 (0) |FADS1 ( + 12 kb) | – | – |
rs2924552 | 56 | 11 | 68,889,367 | T | C | 0.41 | 0.061 | 0.009 | 3.50E-12 | TPCN2 ( + 31 kb) | TPCN2 (eQTL Gen) | 2.18E-5/8.94E-157 |
rs4409785 | 58 | 11 | 95,311,422 | C | T | 0.19 | −0.073 | 0.011 | 9.51E-11 | FAM76B (−190 kb) | SESN3 (eQTL Gen) | 5.37E-62 |
rs73008229 | 59 | 11 | 108,187,689 | A | G | 0.16 | −0.071 | 0.012 | 5.40E-09 | ATM (0) | C11orf65 | 3.18E-05 |
rs10876864 | 61 | 12 | 56,401,085 | A | G | 0.41 | 0.055 | 0.009 | 2.56E-10 | SUOX ( + 1.78 kb) |IKZF4 (−13 kb) | RPS26/IKZF4/SUOX | 3.92E-251/9.86e-9/ 3.97e-54 |
rs17425489 | 62 | 12 | 89,015,138 | A | G | 0.09 | −0.091 | 0.015 | 4.54E-10 | KITLG ( + 40 kb) | – | |
rs10774625 | 64 | 12 | 111,910,219 | G | A | 0.48 | 0.053 | 0.009 | 4.03E-10 | ATXN2 (0) | ALDH2 (blood) | 1.58E-08 |
rs11059675 | 65 | 12 | 122,668,326 | A | G | 0.44 | −0.049 | 0.009 | 1.21E-08 | LRRC43 (0) |IL31( + 9 kb) | LRRC43 | 6.92E-06 |
rs7301141 | 66 | 12 | 133,138,503 | G | A | 0.46 | 0.052 | 0.009 | 6.21E-09 | FBRSL1 (0) | P2RX2 | 4.76E-06 |
rs1136165 | 69 | 14 | 103,988,180 | T | G | 0.38 | 0.054 | 0.009 | 1.11E-09 | CKB (0) | CKB/MARK3 | 1.88E-22/3.15E-31 |