Table II.
Association between seven SNPs and melanoma risk
| SNP information | Discovery set (Harvard and MD Anderson) | Replication 1 (GenoMEL and Australia) | Replication 2 (NHS II) | Meta-analysis | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP | CHR | Position | Gene | A1 | A2 | R 2 | OR (95% CI) | P | OR (95% CI) | P | OR (95% CI) | P | OR (95% CI) | P |
| rs11901831 | 2 | 212225520 | ERBB4 | T | C | 1.96 | 1.39 (1.20–1.61) | 1.1×10−5 | 1.12 (1.01–1.25) | 0.030 | 1.13 (0.74–1.74) | 0.563 | 1.21 (1.11–1.31) | 1.2×10−5 |
| rs13404035 | 2 | 215121966 | SPAG16 | T | C | 1.99 | 0.84 (0.78–0.92) | 3.7×10−5 | 0.92 (0.86–0.98) | 0.008 | 1.22 (0.91–1.63) | 0.182 | 0.90 (0.86–0.94) | 2.0×10−5 |
| rs1031925 | 3 | 51379274 | DOCK3 | T | C | 1.97 | 1.29 (1.15–1.44) | 2.1×10−5 | 1.11 (1.03–1.19) | 0.005 | 0.92 (0.64–1.33) | 0.662 | 1.15 (1.08–1.22) | 8.1×10−6 |
| rs13097028 | 3 | 169464942 | ACTRT3 | T | C | 1.99 | 0.85 (0.78–0.92) | 4.9×10−5 | 0.92 (0.87–0.97) | 0.002 | 0.88 (0.67–1.16) | 0.376 | 0.89 (0.85–0.93) | 6.7×10−7 |
| rs4698934 | 4 | 106139387 | TET2 | T | C | 1.98 | 1.30 (1.16–1.45) | 5.2×10−6 | 1.10 (1.02–1.19) | 0.018 | 1.67 (1.13–2.45) | 0.009 | 1.18 (1.10–1.25) | 7.7×10−7 |
| rs1889497 | 6 | 65432283 | EYS | A | T | 1.99 | 0.80 (0.72–0.88) | 7.0×10−6 | 0.91 (0.84–0.98) | 0.011 | 0.82 (0.59–1.14) | 0.245 | 0.87 (0.82–0.92) | 1.6×10−6 |
| rs4773180 | 13 | 111062015 | COL4A2 | T | G | 1.96 | 1.32 (1.15–1.50) | 3.9×10−5 | 1.10 (1.00–1.21) | 0.044 | 1.31 (0.82–2.10) | 0.260 | 1.17 (1.09–1.26) | 3.2×10−5 |
A1, allele1, test allele; A2, allele2, reference allele; CHR, chromosome; CI, confidence interval; OR, odds ratio; Position, genome build 37.3; R 2, imputation R 2 in Harvard data.