Two naturally occurring amino acid substitutions of the 5-HT(2A) receptor: Similar prevalence in patients with seasonal affective disorder and controls

Norio Ozaki, Norman E. Rosenthal, Ullamari Pesonen, Jaakko Lappalainen, Susana Feldman-Naim, Paul J. Schwartz, Erick Turner, David Goldman

Research output: Contribution to journalArticle

68 Scopus citations


We screened the 5-HT(2A) receptor gene coding region in 50 patients with seasonal affective disorder (SAD) using a single strand conformational polymorphism analysis and estimated the frequencies of two synonymous and two non-synonymous substitutions we detected in 70 Centre d'Etude du Polymorphism Humain (CEPH) population controls and 62 normal controls. Both of the amino acid substitutions. Ala447-Val447 and His452-Tyr452, were located within the cytoplasmic C-terminal tail of the receptor. Rarer allele frequencies in CEPH were 0.7% and 9.3% for Val447 and Tyr452, respectively. Allele frequencies of all four polymorphisms, including the two amino acid substitutions, were not significantly different in SAD patients as compared to CEPH and normal controls. Lack of association of Val447 and Tyr452 to SAD is consistent with observations showing normal 5-HT(2A) receptor Ca2+ response in platelets with this disorder, however, the two 5-HT(2A) amino acid substitutions may lead to differences in behavioral phenotypes.

Original languageEnglish (US)
Pages (from-to)1267-1272
Number of pages6
JournalBiological Psychiatry
Issue number12
Publication statusPublished - Dec 15 1996
Externally publishedYes



  • 5-HT(2A) receptor
  • gene
  • polymerase chain reaction
  • polymorphism
  • seasonal affective disorder
  • sequence

ASJC Scopus subject areas

  • Biological Psychiatry

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