Table 3.

Combined segregation-linkage analyses of melanoma and CDKN2A mutation status incorporating MC1R variants as covariates

ModelAll genotyped subjects*
CDKN2A mutation carriers
αaaαaAδORMC1R variant (95% CI)Test statistic (χ2)§PαaAδORMC1R variant (95% CI)Test statistic (χ2)§P
R160W−10.27−6.450.932.06 (0.85-4.96)2.200.14−6.570.962.13 (0.82-5.49)2.030.15
D294H−10.53−6.580.953.23 (1.36-7.67)5.690.02−6.791.013.58 (1.49-8.60)6.490.01
R163Q−10.44−6.460.922.59 (1.00-6.45)3.450.06−6.670.982.93 (1.16-7.35)4.210.04
R151C−10.05−6.210.861.27 (0.58-2.76)0.310.57−6.360.911.34 (0.61-2.91)0.480.49
V60L−10.00−6.200.861.14 (0.63-2.03)0.180.68−6.320.891.09 (0.59-1.99)0.070.79
V92M−10.24−6.420.901.59 (0.78-3.20)1.580.21−6.610.951.71 (0.83-3.50)2.030.15
T314T−9.92−6.100.850.89 (0.48-1.63)0.150.70−6.250.890.94 (0.50-1.73)0.050.82
RHC variants−10.70−6.720.962.15 (1.07-4.28)4.710.03−6.901.002.30 (1.15-4.59)5.260.02
  • * Genotyped subjects include carriers and noncarriers of CDKN2A mutations.

  • αaa andαaA are genotype-specific baseline risks in noncarriers and carriers of CDKN2A mutations, respectively; δ is the regression coefficient specifying the variation of the hazard function with time. In the subsample of CDKN2A mutations carriers, only αAa is estimated.

  • The OR of hazard function associated with each covariate [OR = exp(β)] and 95% CI were computed from the corresponding estimate of the regression parameter of that covariate (β).

  • § Tests are based on likelihood ratios and are two sided. Likelihood ratio test compares a model where the effect of the tested factor (MC1R variant) is absent versus a model where it is present and follows a χ2 with 1 degree of freedom.