Multimarkerhaplotypes within the serotonin transporter gene suggest evidence of an association with bipolar disorder

Am J Med Genet. 2000 Dec 4;96(6):845-9. doi: 10.1002/1096-8628(20001204)96:6<845::aid-ajmg30>;2-r.


Previously we obtained modest linkage evidence implicating 17q11. 1-12 in bipolar disorder. A modified genome screen, based on gene-rich regions, on a collection of Irish sib-pair nuclear families revealed excess allele sharing at markers flanking the gene encoding the serotonin transporter (5-HTT; hSERT). Here we describe a study designed to combine the advantages of family-based association studies with the consideration of multiple polymorphic markers within a candidate gene. Ninety-two Irish families, with a total of 106 proband-parent trios, have been genotyped for 3 previously known polymorphisms within hSERT (5-HTTLPR, intron 2 VNTR, and 3' UTR G/T). Data from two and three polymorphic marker haplotypes revealed a number of marker combinations that showed evidence supportive of association; the most significant being for polymorphisms 5-HTTLPR and 3' UTR G/T (global chi(2), 12.91, df 3, P = 0.005). In addition, modest evidence of association also was observed for 5-HTTLPR alone. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:845-849, 2000.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Bipolar Disorder / genetics*
  • Carrier Proteins / genetics*
  • DNA / genetics
  • Family Health
  • Female
  • Gene Frequency
  • Genetic Markers
  • Genotype
  • Haplotypes*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Transport Proteins*
  • Nerve Tissue Proteins*
  • Serotonin Plasma Membrane Transport Proteins


  • Carrier Proteins
  • Genetic Markers
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • DNA