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 Citations (Scopus)

Abstract

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
Volume40
Issue number12
DOIs
StatePublished - Dec 15 1996
Externally publishedYes

Fingerprint

Seasonal Affective Disorder
Receptor, Serotonin, 5-HT2A
Amino Acid Substitution
Gene Frequency
Population Control
Serotonin
Blood Platelets
Phenotype
Genes

Keywords

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

ASJC Scopus subject areas

  • Biological Psychiatry

Cite this

Two naturally occurring amino acid substitutions of the 5-HT(2A) receptor : Similar prevalence in patients with seasonal affective disorder and controls. / Ozaki, Norio; Rosenthal, Norman E.; Pesonen, Ullamari; Lappalainen, Jaakko; Feldman-Naim, Susana; Schwartz, Paul J.; Turner, Erick; Goldman, David.

In: Biological Psychiatry, Vol. 40, No. 12, 15.12.1996, p. 1267-1272.

Research output: Contribution to journalArticle

Ozaki, Norio ; Rosenthal, Norman E. ; Pesonen, Ullamari ; Lappalainen, Jaakko ; Feldman-Naim, Susana ; Schwartz, Paul J. ; Turner, Erick ; Goldman, David. / Two naturally occurring amino acid substitutions of the 5-HT(2A) receptor : Similar prevalence in patients with seasonal affective disorder and controls. In: Biological Psychiatry. 1996 ; Vol. 40, No. 12. pp. 1267-1272.
@article{b4301576023e4b668ac5fa7bceb2b8f0,
title = "Two naturally occurring amino acid substitutions of the 5-HT(2A) receptor: Similar prevalence in patients with seasonal affective disorder and controls",
abstract = "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.",
keywords = "5-HT(2A) receptor, gene, polymerase chain reaction, polymorphism, seasonal affective disorder, sequence",
author = "Norio Ozaki and Rosenthal, {Norman E.} and Ullamari Pesonen and Jaakko Lappalainen and Susana Feldman-Naim and Schwartz, {Paul J.} and Erick Turner and David Goldman",
year = "1996",
month = "12",
day = "15",
doi = "10.1016/0006-3223(95)00649-4",
language = "English (US)",
volume = "40",
pages = "1267--1272",
journal = "Biological Psychiatry",
issn = "0006-3223",
publisher = "Elsevier USA",
number = "12",

}

TY - JOUR

T1 - Two naturally occurring amino acid substitutions of the 5-HT(2A) receptor

T2 - Similar prevalence in patients with seasonal affective disorder and controls

AU - Ozaki, Norio

AU - Rosenthal, Norman E.

AU - Pesonen, Ullamari

AU - Lappalainen, Jaakko

AU - Feldman-Naim, Susana

AU - Schwartz, Paul J.

AU - Turner, Erick

AU - Goldman, David

PY - 1996/12/15

Y1 - 1996/12/15

N2 - 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.

AB - 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.

KW - 5-HT(2A) receptor

KW - gene

KW - polymerase chain reaction

KW - polymorphism

KW - seasonal affective disorder

KW - sequence

UR - http://www.scopus.com/inward/record.url?scp=0030589453&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030589453&partnerID=8YFLogxK

U2 - 10.1016/0006-3223(95)00649-4

DO - 10.1016/0006-3223(95)00649-4

M3 - Article

C2 - 8959291

AN - SCOPUS:0030589453

VL - 40

SP - 1267

EP - 1272

JO - Biological Psychiatry

JF - Biological Psychiatry

SN - 0006-3223

IS - 12

ER -