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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