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Replication of PheWAS for TRPV4 Variant in Kaiser Permanente GERA Cohort

We will use the RPGEH GERA cohort to investigate associations of genetic variation (SNP genotypes) with several related conditions, including congestive heart failure, chronic kidney disease, and possibly related phenotypes. Our first objective will be to replicate findings of association of a specific genetic variant with a number of phenotypes, including congestive heart failure, pulmonary edema, and kidney disease. We will utilize the same phenotype definitions as in the original analysis, based on algorithmic extraction of electronic medical record data. In parallel, we will pursue our second and third objectives, which focus on a more in-depth analysis of the role of genome-wide variation in congestive heart failure and kidney disease. This will involve the development of deep phenotypes for these conditions that utilize extensive characterization of these conditions using KPNC electronic records.

Investigator: Schaefer, Catherine

Funder: GlaxoSmithKline PLC

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