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Table 3 Distribution of MC1R variants among Sardinian melanomas and controls

From: Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy

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.
  1. 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