Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia
2024

Genetic Study of Bipolar Disorder and Schizophrenia in African Americans

Sample size: 17963 publication Evidence: moderate

Author Information

Author(s): Li Runjia, Gagliano Taliun Sarah A., Liao Kevin, Flickinger Matthew, Sobell Janet L., Genovese Giulio, Locke Adam E., Chiu Rebeca Rothwell, LeFaive Jonathon, Martins Taylor, Chapman Sinéad, Neumann Anna, Handsaker Robert E., Arnett Donna K., Barnes Kathleen C., Boerwinkle Eric, Braff David, Cade Brian E., Fornage Myriam, Gibbs Richard A., Hoth Karin F., Hou Lifang, Kooperberg Charles, Loos Ruth J.F., Metcalf Ginger A., Montgomery Courtney G., Morrison Alanna C., Qin Zhaohui S., Redline Susan, Reiner Alexander P., Rich Stephen S., Rotter Jerome I., Taylor Kent D., Viaud-Martinez Karine A., NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Genomic Psychiatry Cohort investigators, Bigdeli Tim B., Gabriel Stacey, Zollner Sebastian, Smith Albert V., Abecasis Goncalo, McCarroll Steve, Pato Michele T., Pato Carlos N., Boehnke Michael, Knowles James, Kang Hyun Min, Ophoff Roel A., Ernst Jason, Scott Laura J.

Primary Institution: Cold Spring Harbor Laboratory

Hypothesis

The study investigates the association of genetic variants with bipolar disorder and schizophrenia in African American individuals.

Conclusion

The study found suggestive evidence of genetic associations with bipolar disorder and highlights the importance of further research in African American populations.

Supporting Evidence

  • The study included a total of 17,463 controls to increase statistical power.
  • Suggestive evidence of bipolar disorder association was found on chromosome 18.
  • Lower bipolar disorder risk was associated with rare and low-frequency variants on chromosome 11.

Takeaway

Researchers looked at the DNA of African Americans to see if certain genes are linked to bipolar disorder and schizophrenia, finding some interesting clues.

Methodology

Whole genome sequencing was performed on African American individuals with bipolar disorder, schizophrenia, and unaffected controls, along with additional ancestry-matched controls.

Limitations

The study primarily focuses on African American individuals, which may limit the generalizability of the findings to other populations.

Participant Demographics

1,598 individuals with bipolar disorder, 3,295 with schizophrenia, and 2,651 unaffected controls.

Digital Object Identifier (DOI)

10.1101/2024.12.27.24319111

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