Cindy Boer

General Discussion | 261 6 ▲ Figure 3: The possible roads for osteoarthritis GWAS translation. first a phenotype needs to be defined, this could also include an endophenotype or a stratified phenotype. GWAS, finds an associated lead variant and it’s linked linkage disequilibrium block. Annotation provides the link between GWAS results and biological interpretation: translational research a) this side presents a schematic overview for the possible steps taken to identify possible causal variants and their effects. b) this side presents the possible steps taken to identify possible causal genes. For both the identification of a causal variant and gene all data needs to be examined in the context of the phenotype associated target cell types. All steps taken provide a line of evidence for or against possible causal variant(s) and gene(s). They provide a basis for further experimental validation to prove causality. Identification of causal variants, may also lead to the identification of causal genes, and identification of causal genes can be used for the identification of pathways involved.