Genetic linkage study of bipolar disorder and the serotonin transporter

John R. Kelsoe, Ronald A. Remick, A. Dessa Sadovnick, Helgi Kristbjarnarson, Pamela Flodman, M. Anne Spence, Maureen Morison, Zofi Mroczkowski-Parker, Patricia Bergesch, Mark H. Rapaport, Arvin L. Mirow, Randy D. Blakely, Tomas Helgason, Janice A. Egeland

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


The serotonin transporter (HTT) is an important candidate gene for the genetic transmission of bipolar disorder. It is the site of action of many antidepressants, and plays a key role in the regulation of serotonin neurotransmission. Many studies of affectively ill patients have found abnormalities in serotonin metabolism, and dysregulation of the transporter itself. The human serotonin transporter has been recently cloned and mapped to chromosome 17. We have identified a PstI RFLP at the HTT locus, and here report our examination of this polymorphism for possible linkage to bipolar disorder. Eighteen families were examined from three populations: the Old Order Amish, Iceland, and the general North American population. In addition to HTT, three other microsatellite markers were examined, which span an interval known to contain HTT. Linkage analyses were conducted under both dominant and recessive models, as well as both narrow (bipolar only) and broad (bipolar + recurrent unipolar) diagnostic models. Linkage could be excluded to HTT under all models examined. Linkage to the interval spanned by the microsatellites was similarly excluded under the dominant models. In two individual families, maximum lod scores of 1.02 and 0.84 were obtained at D17S798 and HTT, respectively. However, these data overall do not support the presence of a susceptibility locus for bipolar disorder near the serotonin transporter.

Original languageEnglish (US)
Pages (from-to)215-217
Number of pages3
JournalAmerican Journal of Medical Genetics - Seminars in Medical Genetics
Issue number2
StatePublished - 1996


  • Bipolar disorder
  • Chromosome 17
  • Genetic linkage
  • Serotonin transporter

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology


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