Table 3.

Segregation analysis models, including age-dependent polygenic variance, mismatch repair gene and MUTYH mutation carrier status

ModelNo. ParLLAICPaqA (95% CI)RR Het (95% CI)RR Hom (95% CI)σ2p (<40 y) (95% CI)σ2p (40–49 y) (95% CI)σ2p (50–59 y) (95% CI)σ2p (60–69 y) (95% CI)σ2p (> = 70 y) (95% CI)q(MLH1) (95% CI)q(MSH2) (95% CI)q(MSH6) (95% CI)q(PMS2) (95% CI)q(MUTYH) (95% CI)
Polygenic10-7,218.114,456.10.013.74 (1.47–9.51)2.02 (1.17–3.48)1.11 (0.64–1.91)1.19 (0.74–1.90)0.80 (0.42–1.54)0.000261(0.000198–0.000342)0.000181(0.000134–0.000244)0.000664(0.000447–0.000987)0.000701(0.000474–0.001047)0.01113(0.00950–0.01304)
Mixed dominant12-7,212.514,449.01.00.000992(0.00018–0.00541)31.1 (11.6–83.4)31.1 (11.6–83.4)3.28 (1.10–9.74)0.93 (0.26–3.32)0.46 (0.12–1.81)0.78 (0.27–2.27)0.52 (0.16–1.64)0.000257(0.000195–0.000338)0.000176(0.000130–0.000238)0.000660(0.000444–0.000982)0.000701(0.000471–0.001042)0.01113(0.00950–0.01304)
Mixed recessive12-7,216.114,456.20.0070.151 (0.057–0.403)1.010.8 (3.5–33.4)3.28 (1.24–8.64)1.50 (0.70–3.21)0.69 (0.27–1.79)0.82 (0.35–1.94)0.64 (0.25–1.64)0.000261(0.000198–0.000343)0.000180(0.000133–0.000244)0.000663(0.000446–0.000985)0.000703(0.000473–0.001045)0.01109(0.00947–0.01299)
Mixed codominant13-7,212.514,451.00.000992 (0.00018–0.00541)31.1 (11.6–83.4)31.1 (11.6–83.4)3.28(1.10–9.74)0.93 (0.26–3.32)0.46 (0.12–1.81)0.78(0.27–2.27)0.52 (0.16–1.64)0.000257 (0.000195–0.000338)0.000176 (0.000130–0.000238)0.000660(0.000444–0.000982)0.000701(0.000471–0.001042)0.01113(0.00950–0.01304)
  • Abbreviations: AIC, Akaile's Information Criterion; hom, homozygous; het, heterozygous, Par, number of parameters estimated in the model; RR, relative risk as compared with noncarriers; LL, log-likelihood; qA, estimated high-risk allele frequency for the unidentified major genes; q, minor allele frequency; σ2p, variance of the polygenic component; –, not applicable.

  • aFor all models, P value refers to the comparison with the mixed codominant model using the log-likelihood ratio test.