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Approved research

Genome and Phenome Wide Association Studies of Mucosal Immunity

Principal Investigator: Professor Noam Cohen
Approved Research ID: 25752
Approval date: June 25th 2018

Lay summary

Genetic polymorphisms of the mucosal, g-protein coupled, taste family type 2-receptors (T2Rs) correlate with chronic rhinosinusitis (CRS). We will perform a Genome Wide Association Study (GWAS) to identify other polymorphisms that associate with CRS. More broadly we have shown that T2Rs contribute to innate immunity through mucosal microbe detection and clearance. Because T2Rs are present on all mucosal surfaces we hypothesize that T2R polymorphisms associated with CRS will also associate with other inflammatory disorders of mucosal immunity. We will test this hypothesis using Phenome Wide Association Studies with known T2R polymorphisms, as well as other polymorphisms identified in our GWAS. Chronic Rhinosinusitis affects millions of people worldwide. Today one out of every five antibiotic prescriptions in the U.S. written for adults is for the management of rhinosinusitis. Our research project aims to explore how our bodies fight this widespread disease and even more importantly, to apply our findings broadly to all diseases of mucosal infection/inflammation. Research dedicated to understanding and treating these diseases of mucosal immunity is of utmost importance to the general public, not only in order to improve the quality of life for so many people, but also in terms of health care spending. We will plan to use Genome Wide Association Studies (GWAS) to identify common genetic variants that predispose individuals to developing chronic rhinosinusitis. We will also use Phenome Wide Associations Studies (PheWAS) to evaluate the association between known genetic variants in twenty-five taste family T2-receptors and other diseases, anticipating these to include common disorders of mucosal inflammation. Full cohort