Genetic epidemiology of complex phenotypes

Abstract

A theory is given for complex phenotypes represented by an ordered polychotomy separately for affected (as severity) and for normals (as diathesis), with consideration of history, ascertainment, sampling frames, and phenotype systems. Nonrandom selection of probands by severity is permitted. Both probit and logistic models are developed in a form compatible with segregation and/or linkage analysis. Probabilities are set out in detail in the Appendix. This approach avoids problems that have been encountered with quantitative traits and correlated phenotypes, although using this information.