Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Sep 18;10(1):314.
doi: 10.1038/s41398-020-00996-y.

Dissecting clinical heterogeneity of bipolar disorder using multiple polygenic risk scores

Affiliations

Dissecting clinical heterogeneity of bipolar disorder using multiple polygenic risk scores

Brandon J Coombes et al. Transl Psychiatry. .

Abstract

Bipolar disorder (BD) has high clinical heterogeneity, frequent psychiatric comorbidities, and elevated suicide risk. To determine genetic differences between common clinical sub-phenotypes of BD, we performed a systematic polygenic risk score (PRS) analysis using multiple PRSs from a range of psychiatric, personality, and lifestyle traits to dissect differences in BD sub-phenotypes in two BD cohorts: the Mayo Clinic BD Biobank (N = 968) and Genetic Association Information Network (N = 1001). Participants were assessed for history of psychosis, early-onset BD, rapid cycling (defined as four or more episodes in a year), and suicide attempts using questionnaires and the Structured Clinical Interview for DSM-IV. In a combined sample of 1969 bipolar cases (45.5% male), those with psychosis had higher PRS for SCZ (OR = 1.3 per S.D.; p = 3e-5) but lower PRSs for anhedonia (OR = 0.87; p = 0.003) and BMI (OR = 0.87; p = 0.003). Rapid cycling cases had higher PRS for ADHD (OR = 1.23; p = 7e-5) and MDD (OR = 1.23; p = 4e-5) and lower BD PRS (OR = 0.8; p = 0.004). Cases with a suicide attempt had higher PRS for MDD (OR = 1.26; p = 1e-6) and anhedonia (OR = 1.22; p = 2e-5) as well as lower PRS for educational attainment (OR = 0.87; p = 0.003). The observed novel PRS associations with sub-phenotypes align with clinical observations such as rapid cycling BD patients having a greater lifetime prevalence of ADHD. Our findings confirm that genetic heterogeneity contributes to clinical heterogeneity of BD and consideration of genetic contribution to psychopathologic components of psychiatric disorders may improve genetic prediction of complex psychiatric disorders.

PubMed Disclaimer

Conflict of interest statement

Dr. Frye has received grant support from Assurex Health, Myriad, Pfizer, National Institute of Mental Health (RO1 MH079261), National Institute of Alcohol Abuse and Alcoholism (P20AA017830), and Mayo Foundation; has been a consultant to Janssen Global Services, LLC, Mitsubishi Tanabe Pharma Corporation, Myriad, Sunovion, and Teva Pharmaceuticals; has received CME/Travel Support/presentation from CME Outfitters Inc. and Sunovian; Mayo Clinic has a financial interest in AssureRx and OneOme. Dr. McElroy is a consultant to or member of the scientific advisory boards of Bracket, MedAvante, Naurex, Shire, and Sunovion. She is a principal or co-investigator on studies sponsored by the Agency for Healthcare Research & Quality (AHRQ), AstraZeneca, Cephalon, Forest, Marriott Foundation, National Institute of Mental Health, Orexigen Therapeutics, Inc., Shire, and Takeda Pharmaceutical Company Ltd. She is also an inventor on United States Patent No. 6,323,236 B2, Use of Sulfamate Derivatives for Treating Impulse Control Disorders, and along with the patent’s assignee, University of Cincinnati, Cincinnati, Ohio, has received payments from Johnson & Johnson, which has exclusive rights under the patent. In the last 3 years, Dr Weissman has received research funds from NIMH, Templeton Foundation, Brain and Behavior and the Sackler Foundation, and has received royalties for publications of books on interpersonal psychotherapy from Perseus Press, Oxford University Press, on other topics from the American Psychiatric Association Press and royalties on the social adjustment scale from Multihealth Systems. None of these represent a conflict of interest.

Figures

Fig. 1
Fig. 1. Forest plot of significant PRS associations with each sub-phenotype stratified by study (black = combined; green = GAIN; maroon = Mayo Clinic).
Each bar represents a 95% CI of the increased log (odds) in the sub-phenotype associated with one SD increase in the PRS. The P-values for each PRS included in the model by itself (P.m) or with other significant PRSs (P.j) and adjusted Nagelkerke’s R2 (R2) are listed in the margins for each PRS.

References

    1. Smoller JW, et al. Psychiatric genetics and the structure of psychopathology. Mol. Psychiatry. 2019;24:409–420. - PMC - PubMed
    1. Owen MJ, O’Donovan MC. Schizophrenia and the neurodevelopmental continuum:evidence from genomics. World Psychiatry. 2017;16:227–235. - PMC - PubMed
    1. Tesli M, et al. Polygenic risk score and the psychosis continuum model. Acta Psychiatr. Scand. 2014;130:311–317. - PubMed
    1. Martin AR, Daly MJ, Robinson EB, Hyman SE, Neale BM. Predicting polygenic risk of psychiatric disorders. Biol. Psychiatry. 2019;86:97–109. - PMC - PubMed
    1. Torkamani A, Wineinger NE, Topol EJ. The personal and clinical utility of polygenic risk scores. Nat. Rev. Genet. 2018;19:581–590. - PubMed

Publication types