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Chromosomal aberrations and bipolar affective disorder

N Craddock1, M Owen

  • 1Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff.

The British Journal of Psychiatry : the Journal of Mental Science
|April 1, 1994
PubMed
Summary

Chromosomal abnormalities in bipolar disorder can pinpoint gene locations. Identifying these regions aids in understanding genetic susceptibility for bipolar illness.

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Area of Science:

  • Genetics
  • Psychiatry
  • Genomic Medicine

Background:

  • Bipolar disorder (BD) is a complex psychiatric condition with a significant genetic component.
  • Identifying susceptibility genes for BD is crucial for understanding its etiology and developing targeted treatments.
  • Chromosomal abnormalities have historically aided in gene localization for various disorders.

Purpose of the Study:

  • To review and evaluate reported chromosomal abnormalities associated with bipolar and related affective disorders.
  • To identify specific genomic regions potentially harboring susceptibility genes for bipolar disorder.
  • To provide guidance for clinicians in recognizing patients who may benefit from genetic investigation.

Main Methods:

  • Systematic review of published literature on chromosomal abnormalities in bipolar disorder.

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  • Application of standardized criteria for evaluating the relevance of reported abnormalities.
  • Identification and consolidation of candidate genomic regions based on reported associations.

    • Main Results:

    • Twenty-eight reports of chromosomal abnormalities associated with bipolar disorder were identified.
    • Four specific genomic regions were highlighted as potentially significant for bipolar disorder susceptibility: 11q21-25, 15q11-13, chromosome 21, and Xq28.
    • These regions represent promising targets for further molecular genetic investigation.

    Conclusions:

    • Chromosomal abnormalities serve as valuable markers for localizing susceptibility genes in bipolar disorder.
    • Specific genomic regions (11q21-25, 15q11-13, chr21, Xq28) warrant further investigation.
    • Clinicians should consider referral for karyotyping in patients with functional psychosis and specific clinical features suggestive of underlying chromosomal abnormalities.