Table 1 Genetic model parameters
Major loci | Disease allele frequency | Inheritance at loci epistatic models | Modifying genes/penetrance | |
|---|---|---|---|---|
Phenotype 1 | D1 D2 | 0.015 0.15 | Dominant-Dominant | Penetrance of genotype is 0.6 |
Phenotype 2 | D2 D3 | 0.15 0.2 | D2-D3 Recessive-Dominant | If D5 has allele 1, Phenotype 2 will be converted into. Phenotype 1 with a 0.7 probability Gene frequency allele 1 at D5 = 0.25. |
D4 | 0.3 | D3-D4 Dominant-Recessive | If D6 has allele 1, penetrance is 0.3, otherwise, penetrance is 0.6. Allele 1 frequency at D6 = 0.08 | |
Phenotype 3 | D1 D4 | 0.15 0.3 | D1-D4 Dominant-Recessive | Penetrance of genotype = 1.0 |
D2 D3 | 0.15 0.2 | D2-D3 Dominant-Recessive | Penetrance of genotype = 0.4 |