Candidate gene studies of bipolar disorder

Ann Med. 2001 May;33(4):248-56. doi: 10.3109/07853890108998753.


Genetic factors undoubtedly play an important role in determining vulnerability to bipolar disorder but the task of finding susceptibility genes is not trivial. Candidate gene studies, usually employing the association approach, offer the potential to discover the genes of relatively modest effect size that are expected for a complex genetic disorder. Candidate gene approaches depend crucially on our current understanding of disease pathophysiology, and attention has consequently been focussed on a limited range of neurotransmitter systems implicated by the action of drug treatments. Despite no unequivocal, consistently replicated findings, a number of intriguing results have emerged in the literature, both for bipolar disorder in general and for subtypes such as bipolar affective puerperal psychosis and rapid cycling bipolar illness. Genes of particular current interest include those encoding the serotonin transporter, monoamine oxidase A (MAOA) and catechol-O-methyl transferase (COMT). As susceptibility genes are found and knowledge of aetiology advanced it is likely that many more candidate genes in novel biological systems will attract attention.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bipolar Disorder / genetics*
  • Carrier Proteins / genetics
  • Case-Control Studies
  • Catechol O-Methyltransferase / genetics
  • Genetic Predisposition to Disease
  • Genetic Techniques
  • Genetics, Population
  • Humans
  • Membrane Glycoproteins / genetics
  • Membrane Transport Proteins*
  • Monoamine Oxidase / physiology
  • Nerve Tissue Proteins*
  • Receptors, Dopamine D2 / genetics
  • Receptors, Dopamine D3
  • Receptors, Serotonin / genetics
  • Serotonin Plasma Membrane Transport Proteins
  • Tyrosine 3-Monooxygenase / genetics


  • Carrier Proteins
  • DRD3 protein, human
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • Receptors, Dopamine D2
  • Receptors, Dopamine D3
  • Receptors, Serotonin
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • serotonin 5 receptor
  • Tyrosine 3-Monooxygenase
  • Monoamine Oxidase
  • Catechol O-Methyltransferase