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Role of Polygenic Risk Score in the Familial Transmission of Bipolar Disorder in Youth

March 28, 2022

UPMC Department of Psychiatry researchers recently published an article outlining if bipolar disorder (BD) polygenic risk score is associated with familial transition of BD in youth. 

Authors aimed to establish genetic connections to the transmission of BD from parents to children to further inform the risk of developing the disorder and validate BD in youth. 

This community-based case-control longitudinal study included two groups: parents with BD I/II and their offspring and parents without BD and their offspring. 

Participants were evaluated through standardized interviews — without the knowledge of parental diagnosis. They also extracted DNA from saliva that was genotyped. 

A total of 156 parents with BD I/II and 180 parents without BD as well as 251 offspring of parents with BD and 158 offspring of parents without BD were analyzed. Participants were assessed a mean of 6.7 times across a mean of 13 years of follow-up. 

Authors found that more offspring of parents with BD developed BD and depression compared with offspring of parents with BD. Polygenic risk score was higher in both parents and offspring with BD than parents and offspring without, but polygenic risk score did not vary among BD subtypes. 

These findings add to the existing clinical validation of BD in youth and show that parental BD and offspring BD polygenic risk score are independently associated with the risk of BD in offspring. However, the association of BD polygenic risk score was small and cannot be used alone to determine BD risk.


Boris Birmaher, MD
Distinguished Professor of Psychiatry and Endowed Chair in Early Onset Bipolar Disease

Danella Hafeman, MD, PhD
Assistant Professor of Psychiatry

Tina Goldstein, PhD
Associate Professor of Psychiatry and Psychology

Dara Sakolsky, MD
Associate Professor of Psychiatry

Rasim Diler, MD
Professor of Psychiatry

Vishwajit Nimgaonkar, MD, PhD
Professor of Psychiatry and Human Genetics


Birmaher B, Hafeman D, Merranko J, et al. Role of Polygenic Risk Score in the Familial Transmission of Bipolar Disorder in Youth. JAMA Psychiatry. 2022;79(2):160–168. doi:10.1001/jamapsychiatry.2021.3700