SP 8

Comorbidities - Genetic redefinition of indications

Diseases have historically been defined along organ structures. However, recent genetic discoveries indicate that such a definition may not be appropriate in elucidating the genetic pathology, since one gene can be causative for several diseases (genetic pleiotropy). Although many genome-wide association studies (GWAS) and meta-analyses have been carried out to identify unknown genetic factors for single diseases, systematic cross-phenotype approaches to analyze such data are scarce so far and genome-wide overlap analyses with more than two distinct diseases have not yet been conducted. Within the framework of this project, established and novel analytical approaches will be used to pursue the following objectives: Detection and mapping of novel general inflammation genes through cross-phenotype analyses of large GWAS/Immunochip/Exome Array and sequencing data sets and definition of signature etiologies for disease groups but also particular (“private”) etiologies that are relevant only for a certain disease. In addition, this project will serve to create high-quality and state-of-the-art genetic risk maps for several immune-mediated diseases.

Keywords: Cross-phenotype studies; immune-mediated disease