Table 2.

Number of cases, unaffected relative, and spouse controls, ORs and 95% CIs for selected MC1R variants and risk of melanoma

MC1R variablesCasesUnaffected relative controlsSpouse controls*Adjustment for age only, OR (95% CI)Adjustment for age and CDKN2A, OR (95% CI)Adjustment for age, CDKN2A, pigmentation/nevus factors, OR (95% CI)
(A) All-subjects analysis (conditioning on family)
Any variant
    No66222
    Yes66183563.6 (1.4-8.8)6.9 (2.0-23.4)1.9 (0.5-7.4)
No. of variants
    066222
    135116392.8 (1.1-7.1)4.6 (1.3-15.9)1.1 (0.3-4.7)
    ≥23167175.6 (2.1-14.7)20 (5-80)6.1 (1.2-29.7)
Types of variants
    None66222
    1 NRHC1979242.2 (0.8-6.0)2.9 (0.7-11.2)1.0 (0.2-4.4)
    2+ NRHC91884.9 (1.5-16.1)12.3 (2.0-76.2)4.3 (0.5-35.3)
    1 RHC1637153.8 (1.3-10.6)8.9 (2.2-36.4)1.5 (0.3-7.7)
    1 RHC and 1 NRHC153356.1 (2.1-17.9)22 (4-105)6.0 (1.0-37.0)
    2+ RHC71645.5 (1.6-18.8)55 (8-384)13 (2-119)
(B) Subset analysis of CDKN2A mutation carriers (unconditional analysis)
Adjustment for age only OR (95% CI)Adjustment for age, pigmentation/nevus factors OR (95% CI)
Any variant
    No523
    Yes64499.3 (2.9-30.1)3.1 (0.8-11.5)
No. of variants
    0523
    133395.9 (1.7-19.8)1.7 (0.4-7.1)
    ≥2311024 (6-92)7.3 (1.6-33.2)
Types of variants
    None523
    1 NRHC18264.5 (1.2-16.0)1.5 (0.4-6.6)
    2+ NRHC9413.7 (2.5-74.2)7.1 (1.0-49.4)
    1 RHC15139.9 (2.4-40.9)2.3 (0.5-11.8)
    1 RHC and 1 NRHC15623 (5-106)5.7 (1.0-32.2)
    2+ RHC70
  • * No spouse controls have CDKN2A mutations and were excluded from analyses of CDKN2A mutation carriers.

  • Model not applicable for subset analysis of CDKN2A mutation carriers.