Pulling the covers in electronic health records for an association study with self-reported sleep behaviors

Seth D. Rhoades, Lisa Bastarache, Joshua C. Denny, Jacob J. Hughey



The electronic health record (EHR) contains rich histories of clinical care, but has not traditionally been mined for information related to sleep habits. Here we performed a retrospective EHR study and derived a cohort of 3,652 individuals with self-reported sleep behaviors, documented from visits to the sleep clinic. These individuals were obese (mean body mass index 33.6 kg/m2) and had a high prevalence of sleep apnea (60.5%), however we found sleep behaviors largely concordant with prior prospective cohort studies. In our cohort, average wake time was one hour later and average sleep duration was 40 minutes longer on weekends than on weekdays (p<1ยท10-12). Sleep duration also varied considerably as a function of age, and tended to be longer in females and in whites. Additionally, through phenome-wide association analyses, we found an association of long weekend sleep with depression, and an unexpectedly large number of associations of long weekday sleep with mental health and neurological disorders (q<0.05). We then sought to replicate previously published genetic associations with morning/evening preference on a subset of our cohort with extant genotyping data (n=555). While those findings did not replicate in our cohort, a polymorphism (rs3754214) in high linkage disequilibrium with a previously published polymorphism near TARS2 was associated with long sleep duration (p<0.01). Collectively, our results highlight the potential of the EHR for uncovering the correlates of human sleep in real-world populations.