The study—the first large multi-ancestry genomic analysis of the disorder to include data from people of European, East Asian, African American, and Latino ancestries—also identifies a new region associated with an increased risk for the disorder within the East Asian samples. Cross-referencing a range of methods, including fine-mapping and other variant-to-gene-mapping approaches, the team identified 36 genes suspected to be relevant to bipolar disorder.  

Bipolar disorder is an often lifelong mood disorder that impairs quality of life and functional ability, and is associated with suicidality. It affects an estimated 40-50 million people worldwide. Bipolar disorder is clinically heterogeneous, encompassing distinct subtypes 1 and 2. Bipolar disorder type 1 is characterized by episodes of both mania and depression, while bipolar disorder type 2 includes episodes of hypomania (a less severe form of mania) and depression. Despite the prevalence of bipolar disorder, it can take an average of eight years to get a proper diagnosis, and much remains unknown about the biology of the condition.  

To help elucidate bipolar disorder’s underlying biology, an international team of scientists from within the Psychiatric Genomics Consortium conducted a genome-wide association study, scanning the DNA of 2.9 million study participants from cohorts worldwide to identify genetic markers that were more common in those with the condition. This involved scanning more than 6.7 million common variations in the DNA sequences among the study participants, more than 158,000 of whom experience bipolar disorder.  

“It is well established that bipolar disorder has a substantial genetic basis, so identifying DNA variations that increase risk is of paramount importance to understanding the condition’s genetic architecture. In addition to identifying 298 regions of the genome that contain variations that increase risk for bipolar disorder, the 36 key genes we identified as being linked to the condition can now be followed up in a range of experiments to uncover the biological mechanisms through which each relates to the disorder,” says Niamh Mullins, PhD, Assistant Professor in the Departments of Psychiatry, and Genetics and Genomic Sciences, and the Charles Bronfman Institute for Personalized Medicine at the Icahn School of Medicine at Mount Sinai and one of the senior authors of the paper. “The newly identified genes may also be used in experiments to explore new drug targets and drug development for bipolar disorder.” 

Source: https://www.mountsinai.org/about/newsroom/2025/largest-genetic-study-of-bipolar-disorder-identifies-298-regions-of-the-genome-that-increase-risk-for-the-condition