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Approved research

Evaluation of Association of TRPV4 Variation with Heart Failure, Respiratory, Renal and Menstruation Phenotypes

Principal Investigator: Dr Margaret Ehm
Approved Research ID: 13352
Approval date: September 1st 2015 | Completion date: February 22nd 2019

Lay summary

We completed study of TRPV4 gene designed to identify if 1500 ICD9 codes-derived clinical outcomes (Denny JC et al. Nat Biotechnol. 2013 Dec;31(12):1102-10) were associated with gene variation using Vanderbilt?s BioVU biobank. We observed associations with cluster of lung edema-linked, heart failure and cardiac outcomes as well as renal diseases and dysmenorrhea-linked outcomes that have not been previously reported. If replicated, these associations would provide a link between human disease and the TRPV4 gene, an important drug target. We seek an opportunity to evaluate these associations in the UK Biobank resource. This proposed research is focused on generating results that would provide human genetic target validation for a drug target for heart failure and related conditions in early stage development which fulfills the UK biobank stated purpose which is to improve the prevention, diagnosis and treatment of illnesses. The research will entail defining outcomes and performing statistical analysis of existing genetic data The outcomes will need to be defined using linked healthcare data and to be consistent with outcomes used for the analysis within the BioVU data and described in the 2013 Nature Biotechnology paper. Statistical genetic analysis will utilize logistic regression adjusting for necessary covariates. Results would be published in a peer reviewed journal. The study will utilize all participants with adequate phenotype and genetic data ? 500,000.