Table 4.
Results of association analyses of individual pigmentation-associated SNPs and risk of CMM.
| Locus/Variant | SNP | Allelic Odds Ratio for CMM (P-value) | |||
|---|---|---|---|---|---|
| All cases and controls | Subset: 100% Northern European ancestry | Same subset, adjusted for hair, eye and skin colora | Same subset, adjusted for MC1R genotype | ||
| SLC45A2 i3 | rs35391 | 3.71 (<1.0e-4)d | 2.49 (0.0014) | 1.53 (0.11) | 1.68 (0.16) |
| SLC45A2 i3 | rs28777 | 3.75 (<1.0e-4) | 2.37 (0.0012) | 1.68 (0.045) | 2.28 (0.0028) |
| SLC45A2*F374L | rs16891982 | 3.44 (<1.0e-4) | 2.86 (<1.0e-5) | 1.68 (0.0001) | 1.68 (0.0004) |
| IRF4 i4 | rs12203592 | 1.04 (0.32) | 1.18 (0.0075) | 1.05 (0.45) | 1.03 (0.77) |
| TYRP1 | rs1408799 | 1.20 (0.0007) | 1.14 (0.0117) | 1.166 (0.014) | 1.06 (0.56) |
| TYRP1 i6 | rs2733832 | 1.16 (0.0018) | 1.12 (0.0243) | 1.121 (0.025) | 1.06 (0.33) |
| TYR*R402Q | rs1126809 | 1.20 (0.002) | 1.13 (0.001) | 1.19 (0.0059) | 1.37 (0.0004) |
| TYR*S192Y | rs1042602 | 1.05 (0.30) | 1.10 (0.10) | 1.14 (0.040) | 1.17 (0.041) |
| SLC24A4 | rs12896399 | 1.11 (0.24) | 1.12 (0.37) | 1.07 (0.30) | 1.09 (0.24) |
| OCA2*R419Q | rs1800407 | 1.31 (0.004) | 1.18 (0.20) | 1.23 (0.096) | 1.35 (0.022) |
| HERC2 i86 | rs12913832 | 1.15 (0.042) | 1.06 (0.51) | 1.20 (0.078) | 1.21 (0.048) |
| MC1R*V60L | rs1805005 | 1.01 (0.80) | 1.02 (0.87) | 1.02 (0.83) | - |
| MC1R*D84E | rs1805006 | 1.61 (0.013) | 2.15 (0.004) | 1.58 (0.10) | - |
| MC1R*V92M | rs2228479 | 1.07 (0.53) | 1.12 (0.42) | 1.08 (0.62) | - |
| MC1R*R142H | rs11547464 | 2.25 (0.055) | 3.33 (0.014) | 3.85 (0.011) | - |
| MC1R*R151C | rs1805007 | 1.58 (7.0e-4) | 1.39 (0.0042) | 1.00 (0.99) | - |
| MC1R*R160W | rs1805008 | 1.68 (<1.0e-4) | 1.53 (<1e-4) | 1.29 (0.092) | - |
| MC1R*R163Q | rs885479 | 1.15 (0.54) | 1.04 (0.99) | 1.04 (0.83) | - |
| MC1R*D294H | rs1805009 | 1.42 (0.019) | 1.27 (0.87) | 1.01 (0.87) | - |
| MC1R “R”b | 1.65 (<1e-5) | 1.56 (<1e-5) | 1.12 (0.1481) | ||
| MC1R “r” c | 1.10 | 1.08 | 0.95 | ||
| ASIP region | rs4911442 | 1.49 (<1e-5) | 1.46 (<1e-5) | 1.32 (8.0e-4) | 1.39 (0.0037) |
a
Hair color encoded as 4 category categorical variable (fair, light brown, red, dark). Eye color as 3 category ordinal trait. Skin color as 3 category ordinal trait.
b
High penetrance red hair color MC1R haplotype: variant at D84E, R142H, R151C, R160W, or D294H.
c
Low penetrance red hair color MC1R haplotype: variant at V60L, V92M, or R163Q.
d
Bolding denotes P value < 10−3 (equivalent to P<0.04 after a Bonferroni correction for forty tests).