Table 1.
I. Putative Endophenotype Threshold Criteria | 1. Associated with one or more relevant clinical phenotypes and |
2. Is heritable and/or | |
3. Is present in first degree relatives of those with the clinical phenotype and/or | |
4. Shares genetic variance with the clinical phenotype | |
II. Molecular Genetic Endophenotype Verification | 5. Shows verified association with specific genetic variants |
6. These verified variants show robust association with the clinical phenotype | |
III. Utility | 7. Predicts the development of the clinical phenotype |
8. Enhances theoretical understanding of the brain mechanisms accounting for endophenotype individual differences | |
9. Informs an animal model | |
10. Identifies genetic variants that have relatively large effect |
Note - Topics 1, 2, and 3 overlap with criteria in Gottesman & Gould (2003)