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We screened the 5-HT2A 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-HT2A receptor Ca2+ response in platelets with this disorder, however, the two 5-HT2A amino acid substitutions may lead to differences in behavioral phenotypes.
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Article info
Publication history
Received in revised form:
December 8,
1995
Received:
July 17,
1995
Identification
Copyright
© 1996 Society of Biological Psychiatry. Published by Elsevier Inc.
