Patients with bipolar disorder have a high prevalence of comorbid medical illness. However, the mechanisms underlying these comorbidities with bipolar disorder are not well known. Certain genetic variants may have pleiotropic effects, increasing the risk of bipolar disorder and other medical illnesses simultaneously. In this study, Prieto and colleagues evaluated the association of bipolar-susceptibility genetic variants with various medical conditions that tend to co-exist with bipolar disorder, using electronic health records (EHR) data linked to genome-wide single-nucleotide polymorphism (SNP) data.

Data from 7316 Caucasian subjects were used to test the association of 19 EHR-derived phenotypes with 34 SNPs that were previously reported to be associated with bipolar disorder. The top association findings suggested that specific bipolar disorder risk alleles in the CACNA1C gene and in SVEP1 may be associated with increased risk of ‘cardiac dysrhythmias’ and ‘essential hypertension’, respectively. Although these associations were not statistically significant after multiple testing correction, both genes have been previously implicated in cardiovascular phenotypes. The authors also present evidence supporting these associations, especially SVEP1 SNP with hypertension. This study is an example of the potential for large scale EHR-based analyses to discover pleiotropic effects contributing to complex psychiatric traits and commonly co-occurring medical conditions.


Prieto ML, Ryu E, Jenkins GD, Batzler A, Nassan MM, Cuellar-Barboza AB, Pathak J, McElroy SL, Frye MA and Biernacka JM: Leveraging electronic health records to study pleiotropic effects on bipolar disorder and medical comorbidities. Transl Psychiatry 2016 Aug 16;6:e870. doi: 10.1038/tp.2016.138.


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