Ontology modeling of genetic susceptibility to adverse events following vaccination

Administration of different vaccines triggers a variety of adverse events in some groups of people but not in others. This phenomenon may be due to the variation of genetic factors that affects the susceptibility to vaccine adverse events. In this study, we introduce the development of an Ontology of Genetic Susceptibility Factor (OGSF) that is aligned with the Basic Formal Ontology (BFO). OGSF represents the genetic susceptibility, genetic susceptibility factors and vaccine adverse events using formal ontologies. Two case studies were used to test and validate the model. One case study represents a human gene allele DBR1*15:01 as a genetic susceptibility factor to vaccine Pandemrix related multiple sclerosis. Genetic polymorphisms associated with smallpox vaccine adverse event was analysed as the second use case. A SPARQL query, visualization of extracted data as a network and the social network analysis of the network, further provide insights on the evaluation and application of the ontology.