The paper develops pathway-specific polygenic scores to predict lithium treatment response in bipolar disorder and finds associations with specific biological pathways.

Biological Psychiatry Global Open Science · Jun 25, 2025Peer-reviewedGenetic & Genomic Medicine

Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder

Tracey van der Veen, Markos Tesfaye, Jessica Mei Kay Yang, Toni A. Boltz, Friederike Sophie David, Shane Crinion, Maria Koromina, Till F. M. Andlauer, Tim B. Bigdeli, Brandon J. Coombes, Tiffany A. Greenwood, Georgia Panagiotaropoulou, Nadine Parker, Heejong Sung, Nicholas James Bass, , Melvin G. McInnis

This study identifies genetic risk loci and factors underlying clinical subtypes of bipolar disorder using GWAS and meta-analysis.

medRxiv · Jun 23, 2025 · PreprintGenetic & Genomic Medicine

Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

Niamh Mullins, Andreas J. Forstner, Kevin Sean O’Connell, Brandon J. Coombes, Jonathan R. I. Coleman, Zhen Qiao, Thomas D. Als, Tim B. Bigdeli, Sigrid Børte, Julien Bryois, Alexander W. Charney, Ole Kristian Drange, Michael J. Gandal, Saskia P. Hagenaars, Masashi Ikeda, , Janos L. Kalman

Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

Nature Genetics · May 17, 2021Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

Till F. M. Andlauer, Jose Guzman Parra, Fabian Streit, Jana Strohmaier, Maria José González, Susana Gil Flores, Francisco Cabaleiro, Francisco del Río Noriega, Fermín Pérez, Jesus Haro González, Guillermo Orozco Díaz, Yolanda de Diego‐Otero, Berta Moreno‐Küstner, Georg W. J. Auburger, Franziska Degenhardt, , Claudia Giambartolomei

The paper examines common genetic variants' contribution to bipolar disorder risk in multiplex families and finds higher polygenic risk scores in affected individuals compared to controls and unaffected family members.

Molecular Psychiatry · Nov 11, 2019Peer-reviewedGenetics

Genomewide association study identifies 30 loci associated with bipolar disorder

Eli A. Stahl, Gerome D. Breen, Andreas J. Forstner, Andrew McQuillin, Stephan Ripke, Vassily Trubetskoy, Manuel Mattheisen, Yunpeng Wang, Jonathan R. I. Coleman, Héléna A. Gaspar, Christiaan de Leeuw, Stacy Steinberg, Jennifer M. Whitehead Pavlides, Maciej Trzaskowski, Enda M. Byrne, , Anders Juréus

This study identifies 30 genome-wide significant loci associated with bipolar disorder, including novel genes involved in ion channels, neurotransmitters, and synaptic components.

Nature Genetics · May 1, 2019Peer-reviewedGenetics

Polygenic scores for major depressive disorder and depressive symptoms predict response to lithium in patients with bipolar disorder

Azmeraw T. Amare, Klaus Oliver Schubert, Liping Hou, Scott Richard Clark, Sergi Papiol, Micah Cearns, Urs Heilbronner, Franziska Degenhardt, Fasil Tekola Ayele, Yi‐Hsiang Hsu, Tatyana Shekhtman, Mazda Adli, Nirmala Akula, Kazufumi Akiyama, Raffaella Ardau, , Mario Maj

The paper shows that polygenic scores for depression traits predict lithium response in bipolar disorder patients, with lower genetic load linked to better treatment outcomes.

bioRxiv · Oct 26, 2018 · PreprintGenomics

High genetic loading for schizophrenia predicts poor response to lithium in patients with bipolar disorder: A polygenic score and cross-trait genetic analysis

Azmeraw T. Amare, Klaus Oliver Schubert, Liping Hou, Scott Richard Clark, Sergi Papiol, Urs Heilbronner, Franziska Degenhardt, Fasil Tekola Ayele, Yi‐Hsiang Hsu, Tatyana Shekhtman, Mazda Adli, Nirmala Akula, Kazufumi Akiyama, Raffaella Ardau, Bárbara Arias, , Gustavo Turecki

This study finds that a higher genetic risk for schizophrenia is linked to poorer lithium response in bipolar disorder patients, suggesting potential for personalized treatment strategies.

bioRxiv · Nov 11, 2017 · PreprintGenetics