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

• Published in: Biological psychiatry (1969) Vol. 40; no. 12; pp. 1267 - 1272
• Main Authors: Ozaki, Norio, Rosenthal, Norman E., Pesonen, Ullamari, Lappalainen, Jaakko, Feldman-Naim, Susana, Schwartz, Paul J., Turner, Erick H., Goldman, David
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 1996
• Subjects: 5-HT 2A receptor; gene; polymerase chain reaction; polymorphism; Seasonal affective disorder; sequence; Seasonal affective disorder; sequence; 5-HT 2A receptor; gene; polymorphism; polymerase chain reaction
• ISSN: 0006-3223; 1873-2402
• DOI: 10.1016/0006-3223(95)00649-4

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: 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-HT 2A receptor Ca 2+ response in platelets with this disorder, however, the two 5-HT 2A amino acid substitutions may lead to differences in behavioral phenotypes.