Table 4.

Association between nevus phenotype and genotype and melanoma risk by tumor site

Risk factorControlTrunkOR (95% CI)LimbsOR (95% CI)Head and neckOR (95% CI)Rare sites*OR (95% CI)All sitesOR (95% CI)
Residual log body nevus number quartile
    Q1126 (25)12 (4)23 (5)18 (15)2 (4)55 (6)
    Q2126 (25)41 (13)3.47 (1.65-7.32)51 (12)2.59 (1.43-4.69)25 (21)1.72 (0.82-3.60)10 (18)127 (14)2.64 (1.71-4.08)
    Q3126 (25)68 (21)5.48 (2.68-11.18)92 (21)4.90 (2.78-8.64)31 (26)2.14 (1.05-4.38)14 (25)3.31 (1.31-8.39)205 (22)4.32 (2.84-6.59)
    Q4126 (25)202 (63)17.58 (8.86-34.85)274 (62)13.32 (7.78-22.80)45 (38)3.61 (1.81-7.22)30 (54)6.42 (2.81-14.66)551 (59)11.66 (7.78-17.48)
Presence of atypical nevi
    0462 (92)198 (61)316 (72)100 (84)43 (77)657 (70)
    1+42 (8)125 (39)2.27 (1.44-3.59)124 (28)2.07 (1.31-3.27)19 (16)1.46 (0.73-2.94)13 (23)1.82 (0.73-4.55)281 (30)2.08 (1.41-3.06)
rs12203592_chr6§
    CC279 (57)220 (70)273 (63)71 (60)34 (63)598 (65)
    CT185 (38)78 (25)0.54 (0.39-0.74)141 (31)0.78 (0.59-1.03)41 (35)0.87 (0.57-1.34)19 (35)0.84 (0.47-1.52)279 (30)0.70 (0.56-0.89)
    TT22 (5)15 (5)0.87 (0.44-1.71)20 (5)0.93 (0.50-1.74)6 (5)1.07 (0.42-2.74)1 (2)0.37 (0.05-2.86)42 (5%)0.89 (0.52-1.52)
    Linear trend0.68 (0.53-0.88)0.85 (0.68-1.07)0.94 (0.66-1.33)0.77 (0.46-1.29)0.80 (0.66-0.96)
rs7023329_chr9§
    GG94 (20)90 (30)115 (28)29 (25)16 (31)250 (29)
    GA274 (58)146 (49)0.56 (0.39-0.79)209 (51)0.62 (0.45-0.86)61 (54)0.72 (0.44-1.19)25 (49)0.54 (0.27-1.05)441 (50)0.61 (0.46-0.80)
    AA107 (23)61 (21)0.60 (0.39-0.91)89 (22)0.68 (0.46-1.01)24 (21)0.73 (0.40-1.34)10 (20)0.55 (0.24-1.27)184 (21)0.65 (0.46-0.90)
    Linear trend0.76 (0.61-0.94)0.82 (0.67-1.00)0.85 (0.62-1.16)0.71 (0.46-1.11)0.80 (0.68-0.95)
rs2284063_chr22§
    GG193 (40)148 (49)194 (46)56 (47)23 (43)421 (47)
    GA226 (47)126 (41)0.73 (0.54-0.99)187 (44)0.82 (0.62-1.09)57 (48)0.87 (0.57-1.32)26 (48)0.97 (0.53-1.75)396 (44)0.80 (0.63-1.02)
    AA66 (14)31 (10)0.61 (0.38-0.99)45 (11)0.68 (0.44-1.04)6 (5)0.31 (0.13-0.76)5 (9)0.64 (0.23-1.74)87 (10)0.60 (0.42-0.87)
    Linear trend0.76 (0.62-0.95)0.82 (0.68-1.00)0.69 (0.50-0.95)0.85 (0.56-1.30)0.79 (0.67-0.93)
  • *Rare sites include acral, nodal with no known primary, anal, buttock, foot, subungual, and vulval.

  • Quartile 1 and quartile 2 were grouped together in the comparison of residual log body nevus number for rare tumor sites.

  • OR adjusted for age, sex, hair color, freckling as child, general skin type, and (for atypical nevi only) residual log body nevus number.

  • §Crude ORs were reported.