Table 1.

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

MC1R variantsCases (n = 72)All unaffected relative controls (n = 245)Unaffected relative control mutation carriers (n = 72)Spouse controls (n = 78)No. of informative familiesAll-subjects analysis (conditioning on family),* OR (95% CI)Subset analysis of CDKN2A mutation carriers,* OR (95% CI)
None (wild-type)6622323
86insA273241.7 (0.2-18.2)3.4 (0.4-28.9)
V60L23751517102.6 (0.9-7.6)8.2 (2.2-30.3)
S83P1111
D84E0735
V92M113398101.6 (0.4-6.9)12.3 (2.3-66.5)
R151C15421010116.0 (1.4-26.3)8.6 (2.1-34.5)
I155T575234.1 (0.8-21.0)
R160W193541493.4 (1.2-9.8)26 (5-130)
R163Q5133764.3 (0.6-28.6)10.2 (1.6-66.3)
D294H7135351.3 (0.1-13.9)15.6 (2.1-114.4)
  • * All ORs adjusted for age.

  • One case with this MC1R variant was not a CDKN2A mutation carrier.

  • RHC variants.