Polygenic prediction of bipolar disorder in a Latin American sample

Alfredo B. Cuellar-Barboza*, Miguel L. Prieto, Brandon J. Coombes, Manuel Gardea-Resendez, Nicolás Núñez, Stacey J. Winham, Francisco Romo-Nava, Sarai González, Susan L. McElroy, Mark A. Frye, Joanna M. Biernacka

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


To date, bipolar disorder (BD) genetic studies and polygenic risk scores (PRSs) for BD are based primarily on populations of European descent (EUR) and lack representation from other ancestries including Latin American (LAT). Here, we describe a new LAT cohort from the Mayo Clinic Bipolar Biobank (MCBB), a multisite collaboration with recruitment sites in the United States (EUR; 1,443 cases and 777 controls) and Mexico and Chile (LAT; 211 cases and 161 controls) and use the sample to explore the performance of a BD-PRS in a LAT population. Using results from the largest genome-wide association study of BD in EUR individuals, PRSice2 and LDpred2 were used to compute BD-PRSs in the LAT and EUR samples from the MCBB. PRSs explained up to 1.4% (PRSice) and 4% (LDpred2) of the phenotypic variance on the liability scale in the LAT sample compared to 3.8% (PRSice2) and 3.4% (LDpred2) in the EUR samples. Future larger studies should further explore the differential performance of different PRS approaches across ancestries. International multisite studies, such as this one, have the potential to address diversity-related limitations of prior genomic studies and ultimately contribute to the reduction of health disparities.

Bibliographical note

Funding Information:
This work was supported by a generous gift from Claire Huang. The Mayo Clinic Bipolar Disorder Biobank was established with the generous support from the J. Willard and Alice S. Marriott Foundation. We are grateful to all the participants.

Publisher Copyright:
© 2023 Wiley Periodicals LLC.


  • bipolar disorder
  • diversity
  • Latin American
  • polygenic risk score


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