title: Two naturally occurring amino acid substitutions of the 5-HT2A receptor: similar prevalence in patients with seasonal affective disorder and controls.
abstract: 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.
authors.affiliation: Clinical Psychobiology Branch, National Institute of Mental Health, Bethesda, MD 20892, USA.
authors.forename: N
authors.initials: N
authors.lastname: Ozaki
authors.forename: N E
authors.initials: NE
authors.lastname: Rosenthal
authors.forename: U
authors.initials: U
authors.lastname: Pesonen
authors.forename: J
authors.initials: J
authors.lastname: Lappalainen
authors.forename: S
authors.initials: S
authors.lastname: Feldman-Naim
authors.forename: P J
authors.initials: PJ
authors.lastname: Schwartz
authors.forename: E H
authors.initials: EH
authors.lastname: Turner
authors.forename: D
authors.initials: D
authors.lastname: Goldman
mesh_terms: D000483:Alleles; D000596:Amino Acids / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011985:Receptors, Serotonin / Q000235:genetics* / Q000378:metabolism; D016574:Seasonal Affective Disorder / Q000235:genetics* / Q000378:metabolism
chemical_list: D000596:Amino Acids; D011985:Receptors, Serotonin