Genomics yields biological and phenotypic insights into bipolar disorder
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023752%3A_____%2F25%3A43921486" target="_blank" >RIV/00023752:_____/25:43921486 - isvavai.cz</a>
Result on the web
<a href="https://www.nature.com/articles/s41586-024-08468-9" target="_blank" >https://www.nature.com/articles/s41586-024-08468-9</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41586-024-08468-9" target="_blank" >10.1038/s41586-024-08468-9</a>
Alternative languages
Result language
angličtina
Original language name
Genomics yields biological and phenotypic insights into bipolar disorder
Original language description
Bipolar disorder is a leading contributor to the global burden of disease(1). Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown(2). We analysed data from participants of European, East Asian, African American and Latino ancestries (n=158,036 cases with bipolar disorder, 2.8 million controls), combining clinical, community and self-reported samples. We identified 298 genome-wide significant loci in the multi-ancestry meta-analysis, a fourfold increase over previous findings(3), and identified an ancestry-specific association in the East Asian cohort. Integrating results from fine-mapping and other variant-to-gene mapping approaches identified 36 credible genes in the aetiology of bipolar disorder. Genes prioritized through fine-mapping were enriched for ultra-rare damaging missense and protein-truncating variations in cases with bipolar disorder(4), highlighting convergence of common and rare variant signals. We report differences in the genetic architecture of bipolar disorder depending on the source of patient ascertainment and on bipolar disorder subtype (type I or type II). Several analyses implicate specific cell types in the pathophysiology of bipolar disorder, including GABAergic interneurons and medium spiny neurons. Together, these analyses provide additional insights into the genetic architecture and biological underpinnings of bipolar disorder.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10700 - Other natural sciences
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nature
ISSN
0028-0836
e-ISSN
1476-4687
Volume of the periodical
639
Issue of the periodical within the volume
8056
Country of publishing house
GB - UNITED KINGDOM
Number of pages
8
Pages from-to
968-975
UT code for WoS article
001439581600001
EID of the result in the Scopus database
2-s2.0-85217548795