Approach to Identifying Disease-Modifying Genes
In our studies, the conceptual framework for identifying disease-modifying genes is based on a candidate gene approach in which a gene list potentially involved in the pathophysiology of perioperative organ injury and dysfunction was selected a priori based on gene expression analysis of human and animal orthologs as well as pathway analysis, literature review and expert opinion.
Specific polymorphisms in candidate genes were identified from public databases, with special emphasis on polymorphisms with demonstrated or high likelihood of functionally significant effects on the gene product itself (e.g., non-synonymous variant in the coding region of the gene) or on the response of a gene to the product of other genes (i.e., transcription factors) through mutations in the promoter or control sequence of a gene.
Human Studies | Animal Models
Tabor HK et al., Nat Rev Genet 2002;3:391-7