Phenome-wide association studies uncover a novel association of increased atrial fibrillation in males with systemic lupus erythematosus.
OBJECTIVE: Phenome-wide association studies (PheWAS) scan across billing codes in the electronic health record (EHR) and re-purpose clinical EHR data for research. We examined if PheWAS could function as an EHR discovery tool for SLE and uncover novel clinical associations in male versus female SLE patients.
METHODS: We used a de-identified version of the Vanderbilt University Medical Center EHR with over 2.8 million subjects. We performed PheWAS comparing 1) SLE cases vs. age, sex, and race-matched controls and 2) male vs. female SLE cases and controlled for multiple testing using a false discovery rate (FDR) of 0.05.
RESULTS: We identified 1097 SLE subjects and 5735 matched controls. Comparing SLE cases to matched controls, SLE cases were more likely to have codes for SLE disease criteria. In the male vs. female SLE case-only PheWAS adjusting for age and race, males were more likely to have atrial fibrillation (AF) OR = 4.50 (FDR p = 3.23 x 10
CONCLUSION: Using PheWAS to compare males vs. females with SLE, we uncovered a novel association of increased AF in SLE males. SLE disease status was independently associated with AF even after adjusting for age, sex, race, and CAD. These results demonstrate the utility of PheWAS as an EHR discovery tool for SLE. This article is protected by copyright. All rights reserved.
Published In/Presented At
Barnado, A., Carroll, R. J., Casey, C., Wheless, L., Denny, J. C., & Crofford, L. J. (2018). Phenome-wide association studies uncover a novel association of increased atrial fibrillation in males with systemic lupus erythematosus. Arthritis Care & Research, doi:10.1002/acr.23553
Department of Medicine, Department of Medicine Faculty