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A general transmission probability model for pedigree data

F M Demenais, R C Elston

    Human Heredity
    |January 1, 1981
    PubMed
    Summary
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    This study generalizes a genetic model by incorporating sex-dependent transmission, creating a more comprehensive framework for understanding familial aggregation of traits. The enhanced model offers a unified approach to analyzing genetic and environmental influences on trait inheritance.

    Area of Science:

    • Genetics
    • Biostatistics
    • Human Genetics

    Background:

    • The Elston and Stewart (1971) genetic model provides a foundation for analyzing familial aggregation of traits.
    • Simple models often assume sex-independent transmission probabilities.
    • Familial aggregation can result from genetic or environmental factors.

    Purpose of the Study:

    • To generalize the Elston and Stewart genetic model by introducing sex-dependent transmission probabilities.
    • To develop a more inclusive parametrization of familial transmission.
    • To encompass various simple modes of trait transmission.

    Main Methods:

    • Modification of the basic three transmission probabilities in the Elston and Stewart model.
    • Inclusion of sex as a factor influencing transmission probabilities.

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  • Development of a model with twelve transmission probabilities.

    • Main Results:

    • The generalized model incorporates twelve transmission probabilities, accounting for sex-specific effects.
    • This sex-dependent model subsumes key simple modes of genetically and environmentally determined transmission.
    • The parametrization offers a holistic view of familial transmission patterns.

    Conclusions:

    • The sex-dependent genetic model provides a more comprehensive framework for analyzing familial trait aggregation.
    • This generalized approach unifies the study of genetic and environmental transmission influences.
    • While hypothesis testing remains complex, the model enhances the parametrization of familial transmission.