Researchers observed a novel association of increased atrial fibrillation (AF) in men with systemic lupus erythematosus (SLE) using phenotype-wide association studies to uncover associations in men and women with SLE, according to a proof-of-concept study published in Arthritis Care & Research.

Phenome-wide association studies are used to scan billing codes in electronic health records (EHRs) and re-purpose clinical EHR data for research. Studies in SLE usually involve a single-center cohort with up to 1000 patients and may take years to perform, and it can be expensive to retain patients. Therefore, researchers sought to determine whether phenome-wide association studies could function as an EHR discovery tool for SLE and uncover novel clinical associations in men vs women with SLE.

Using the Vanderbilt University Medical Center EHR, the investigators identified 1097 participants with SLE and 5735 matched controls. They performed phenome-wide association studies comparing SLE cases with controls and comparing men vs women with SLE. They found that when comparing SLE cases with matched controls, SLE cases were more likely to have codes for SLE disease criteria. The results suggest that phenome-wide association studies can be used as an EHR discovery tool for SLE.

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When phenome-wide association studies were used to compare comorbidities in men and women with SLE, they found a novel clinical association of increased AF in men. A chart review confirmed that the majority of participants developed AF after SLE diagnosis and had multiple risk factors for AF. After adjusting for age, sex, race, and coronary artery disease, researchers found that SLE disease was significantly associated with AF (P =.002).

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These data represent the first use of phenome-wide association studies in SLE. “We demonstrated that [phenome-wide association studies] could not only identify SLE disease manifestations and important comorbidities in the EHR but also uncover novel clinical associations,” the authors concluded.


Barnado A, Carroll RJ, Casey C, Wheless L, Denny JC, Crofford LJ. Phenome-wide association studies uncover a novel association of increased atrial fibrillation in males with systemic lupus erythematosus [published online February 26, 2018].  Arthritis Care Res. doi:10.1002/acr.23553