A phenome-wide association study (PheWAS) is a computer-based method pioneered at Vanderbilt by Josh Denny, M.D., M.S., using de-identified DNA biobank data linked to health care billing codes. PheWAS typically starts with a genetic variant of interest and looks broadly for any associated human traits (phenotypes). PheWAS complements genome-wide association studies, which start with a common trait and test for associated genetic variants.
PheWAS has expanded beyond genetics, with some researchers starting with a trait and using records to search for associated traits.
In a study of seronegative and seropositive rheumatoid arthritis (RA), to be published in Arthritis & Rheumatology, Jayanth Doss, M.D., M.P.H., Denny and colleagues conduct the first test of PheWAS for comparing disease subtypes.
Locating records of 2,199 RA cases, the investigators find PheWAS replicates associations found in past RA studies. Among other results, compared to seronegative RA patients, seropositives are twice as likely to smoke, and have twice the rate of chronic airway obstruction.
This research was supported by grants from the National Institutes of Health (AR059039, LM010685).
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