251255 Molecular systems biology and genomics: Elucidating the intersection between environmental agents and human disease

Tuesday, November 1, 2011: 12:45 PM

Christopher Portier, PhD , National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA
There has been significant research on the use of gene expression data to identify people with diseases (disease biomarkers), predict exposure to chemicals (exposure biomarkers) and to predict effects from exposure to chemical agents (effects biomarkers). Much of the recent work on effects biomarkers has focused on the classification of the genes into ontology groups that can then be used to predict a biological effect. Gene sets can be formed in a number of ways. One approach widely used is to define a gene set based upon the membership of proteins, enzymes and transcription factors in signaling or metabolic pathways already described by many years of research. There are numerous collections of pathways that could be used such as the Kyoto Encyclopedia of Genes and Genomes Pathways (KEGG pathways). One example of such an approach is the Structurally Enhanced Pathway Enrichment Algorithm (SEPEA). We used the SEPEA algorithm to build a linkage model between genes associated with human diseases and the KEGG pathways. Starting with the Genetic Association Database (GAD), we classified human diseases and conditions into 208 broad diseases and disease categories (e.g. liver cancer, epilepsy, type II diabetes) which we will refer to as the human diseases. For each human condition, we pulled from the GAD all of the genetic polymorphisms associated with that condition and used SEPEA to determine which pathways are most likely to be associated with the disease. This created a linkage mapping between human diseases and the KEGG pathways.

Learning Areas:
Environmental health sciences

Learning Objectives:
1. Describe how molecular systems biology and genomics has impacted and may impact risk assessment in the future. 2. Describe examples of molecular systems biology science that might be relevant to human health risk assessment.

Keywords: Environmental Health, Risk Assessment

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: publications, years at NTP, current Director of NCEH/ATSDR
Any relevant financial relationships? No

I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines, and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed in my presentation.