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: 7544 publication 10 minutes Evidence: moderate

Author Information

Author(s): Li Runjia, Taliun Sarah A. Gagliano, 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., 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: University of Michigan

Hypothesis

What genetic variants are associated with bipolar disorder and schizophrenia in African American individuals?

Conclusion

The study found suggestive evidence of genetic variants associated with bipolar disorder on chromosome 18 and lower risk variants on chromosome 11.

Supporting Evidence

  • Suggestive evidence of association with bipolar disorder on chromosome 18.
  • Lower risk associated with rare and low-frequency variants on chromosome 11.
  • Study included a large sample of African American individuals to address genetic diversity.

Takeaway

Researchers looked at the DNA of people with bipolar disorder and schizophrenia to find out what makes them different from those without these conditions.

Methodology

Whole genome sequencing was performed on African American individuals with bipolar disorder, schizophrenia, and controls, followed by various genetic association tests.

Potential Biases

Potential misclassification in the control group due to undiagnosed psychiatric disorders.

Limitations

The study's sample size is relatively small compared to larger genome-wide association studies, and the control group was not screened for psychiatric disorders.

Participant Demographics

7544 African American individuals, including 1598 with bipolar disorder, 3295 with schizophrenia, and 2651 controls.

Statistical Information

P-Value

1.3 × 10−9

Confidence Interval

1.35 × 10−9

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1101/2024.12.27.24319111

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