Exploring the Role of Heritability in Disease



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The heritability (h2) of a disease is the proportion of phenotypic variance that is due to genetics. The goal of my research is to determine if a trend exists between the heritability of a particular disease and its earliest age of onset. Common genetic wisdom suggests that diseases with greater heritability will have an earlier age of onset, but this has not been heavily tested yet. We collected heritability values for diseases based on ACE model estimates because this divides the total phenotypic variance into additive genetic effects, shared environmental effects, and unique environmental effects. We found values for 97 diseases and categorized them based on ICD-11 classifications before performing a Spearman correlation. Our results suggest that common genetic wisdom might be incorrect, but these results were inconclusive because we have only scratched the surface of possible diseases to test. We will add to our list of diseases before we make any definitive claims about disease onset and heritability. Gathering more data will also allow us to determine whether certain organ systems are genetically predisposed to disease. Inspired by heritability and the ACE model, we also plan to incorporate the environmental components and search for trends with age of onset, prevalence, incidence, and NIH funding allocated for a particular disease. Changes in genetic and environmental proportions and incidence and prevalence could determine the effectiveness of current public health interventions and research studies and potentially motivate reason to change the way we combat disease.