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 H.
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
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U2 - 10.1016/0006-3223(95)00649-4
DO - 10.1016/0006-3223(95)00649-4
M3 - Article
C2 - 8959291
AN - SCOPUS:0030589453
SN - 0006-3223
VL - 40
SP - 1267
EP - 1272
JO - Biological Psychiatry
JF - Biological Psychiatry
IS - 12
ER -