Two naturally occurring amino acid substitutions of the 5-HT2A receptor: Similar prevalence in patients with seasonal affective disorder and controls

被引：65

作者：

Ozaki, N ^{[1
]}

Rosenthal, NE ^{[1
]}

Pesonen, U ^{[1
]}

Lappalainen, J ^{[1
]}

FeldmanNaim, S ^{[1
]}

Schwartz, PJ ^{[1
]}

Turner, EH ^{[1
]}

Goldman, D ^{[1
]}

机构：

[1] NIAAA,NEUROGENET LAB,BETHESDA,MD

来源：

BIOLOGICAL PSYCHIATRY | 1996年 / 40卷 / 12期

关键词：

seasonal affective disorder; 5-HT2A; receptor; gene; polymorphism; polymerase chain reaction; sequence;

D O I：

10.1016/0006-3223(95)00649-4

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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: Ala(447)-Val(447) and His(452)-Tyr(452), were located within the cytoplasmic, C-terminal tail of the receptor, Rarer allele frequencies in CEPH were 0.7% and 9.3% for Val(447) and Tyr(452), 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 Val(447) and Tyr(452) 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. (C) 1996 Society of Biological Psychiatry

引用

页码：1267 / 1272

页数：6

共 27 条

[1] INCREASED SEROTONIN2 (5-HT2) RECEPTOR-BINDING AS MEASURED BY H-3 LYSERGIC ACID DIETHYLAMIDE (H3-LSD) IN THE BLOOD-PLATELETS OF DEPRESSED-PATIENTS [J].