Table 3.
Distribution of MC1R variants among Sardinian melanomas and controls
| MC1R variants | Landi's classification | Positive cases (N = 269) | % | Positive controls (N = 102) | % | P |
|---|---|---|---|---|---|---|
| Val60leu (V60L) | R | 88 | 32.7 | 32 | 31.4 | n.s. |
| Ser83Pro (S83P) | R | 3 | 1.1 | 1 | 1.0 | n.s. |
| Asp84Glu (D84E) | R | 1 | 0.4 | 0 | 0 | n.s. |
| Val92Met (V92M) | R | 16 | 5.9 | 5 | 4.9 | n.s. |
| Thr95Met (T95M) | R | 3 | 1.1 | 1 | 1.0 | n.s. |
| Gly104Ser (G104S) | R | 2 | 0.7 | 1 | 1.0 | n.s. |
| Arg142Cys (R142C) | R | 1 | 0.4 | 0 | 0 | n.s. |
| Arg142His (R142H) | R | 9 | 3.3 | 3 | 2.9 | n.s. |
| Arg151Cys (R151C) | R | 19 | 7.1 | 1 | 1.0 | > 0.01 |
| Tyr152Term (Y152Term) | R | 1 | 0.4 | 0 | 0 | n.s. |
| Ile155Thr (I155T) | R | 4 | 1.5 | 2 | 2.0 | n.s. |
| Arg160Trp (R160W) | R | 13 | 4.8 | 3 | 2.9 | 0.136 |
| Arg163Gln (R163Q) | R | 7 | 2.6 | 2 | 2.0 | n.s. |
| Ser172Ile (S172I) | R | 1 | 0.4 | 0 | 0 | n.s. |
| Arg213Trp (R213W) | R | 5 | 1.9 | 1 | 1.0 | n.s. |
| Ile221Thr (I 221 T) | R | 1 | 0.4 | 0 | 0 | n.s. |
| Pro256Ser (P256S) | R | 2 | 0.7 | 0 | 0 | n.s. |
| Asp294His (D294H) | R | 31 | 11.5 | 5 | 4.9 | 0.048 |
| Thr308Met (T308M) | R | 2 | 0.7 | 0 | 0 | n.s. |
| InsA724 | R | 2 | 0.7 | 0 | 0 | n.s. |
MC1R variants with complete loss of function are defined as "R" (in bold), whereas variants with partial loss of function are defined as "r". P values (chi-squared test; two tailed; 95% confidence interval) were given for MC1R-"R" variants only. n.s., not significant