Association of a 5-HT5A receptor polymorphism, Pro15Ser, to schizophrenia

Nakao Iwata, N. Ozaki, T. Inada, D. Goldman

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Several different lines of evidence suggest that genes involved in serotonergic neurotransmission are factors in the pathogenesis of schizophrenia. For example, 5-HT5A knockout mice revealed decreased locomotor response to lysergic diethylamide (LSD), which produces a psychotic-like state in healthy people. Recently, we reported a naturally occurring conservative Pro15-Ser substitution in the 5-HT5A receptor. Here, we evaluate whether this substitution is associated with schizophrenia in a sample including 249 unrelated Japanese schizophrenia patients and 253 unrelated controls. Patients and controls were genotyped for the Pro15Ser polymorphism by a PCR-RFLP assay. Ser15 allele frequencies were 0.07 in patients with schizophrenia and 0.02 in controls (χ2 = 17.42, df = 1, P < 0.0001). Thus, we detected a highly significant association of Pro15Ser to schizophrenia in a large population of Japanese schizophrenia patients and controls. Since case-control studies have an inherent potential for false-positive results due to population stratification, this finding is preliminary pending further studies, including studies using the transmission/disequilibrium test to eliminate stratification bias or control loci to assess ethnic matching of cases and controls.

Original languageEnglish
Pages (from-to)217-219
Number of pages3
JournalMolecular Psychiatry
Volume6
Issue number2
DOIs
Publication statusPublished - 14-03-2001

Fingerprint

Schizophrenia
Internal-External Control
Gene Frequency
Knockout Mice
Synaptic Transmission
Restriction Fragment Length Polymorphisms
Population
serotonin 5 receptor
Case-Control Studies
Polymerase Chain Reaction
Genes

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Psychiatry and Mental health

Cite this

Iwata, Nakao ; Ozaki, N. ; Inada, T. ; Goldman, D. / Association of a 5-HT5A receptor polymorphism, Pro15Ser, to schizophrenia. In: Molecular Psychiatry. 2001 ; Vol. 6, No. 2. pp. 217-219.
@article{4bd5831fc4d54cfcae4a0e3fcf37dbf3,
title = "Association of a 5-HT5A receptor polymorphism, Pro15Ser, to schizophrenia",
abstract = "Several different lines of evidence suggest that genes involved in serotonergic neurotransmission are factors in the pathogenesis of schizophrenia. For example, 5-HT5A knockout mice revealed decreased locomotor response to lysergic diethylamide (LSD), which produces a psychotic-like state in healthy people. Recently, we reported a naturally occurring conservative Pro15-Ser substitution in the 5-HT5A receptor. Here, we evaluate whether this substitution is associated with schizophrenia in a sample including 249 unrelated Japanese schizophrenia patients and 253 unrelated controls. Patients and controls were genotyped for the Pro15Ser polymorphism by a PCR-RFLP assay. Ser15 allele frequencies were 0.07 in patients with schizophrenia and 0.02 in controls (χ2 = 17.42, df = 1, P < 0.0001). Thus, we detected a highly significant association of Pro15Ser to schizophrenia in a large population of Japanese schizophrenia patients and controls. Since case-control studies have an inherent potential for false-positive results due to population stratification, this finding is preliminary pending further studies, including studies using the transmission/disequilibrium test to eliminate stratification bias or control loci to assess ethnic matching of cases and controls.",
author = "Nakao Iwata and N. Ozaki and T. Inada and D. Goldman",
year = "2001",
month = "3",
day = "14",
doi = "10.1038/sj.mp.4000829",
language = "English",
volume = "6",
pages = "217--219",
journal = "Molecular Psychiatry",
issn = "1359-4184",
publisher = "Nature Publishing Group",
number = "2",

}

Association of a 5-HT5A receptor polymorphism, Pro15Ser, to schizophrenia. / Iwata, Nakao; Ozaki, N.; Inada, T.; Goldman, D.

In: Molecular Psychiatry, Vol. 6, No. 2, 14.03.2001, p. 217-219.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Association of a 5-HT5A receptor polymorphism, Pro15Ser, to schizophrenia

AU - Iwata, Nakao

AU - Ozaki, N.

AU - Inada, T.

AU - Goldman, D.

PY - 2001/3/14

Y1 - 2001/3/14

N2 - Several different lines of evidence suggest that genes involved in serotonergic neurotransmission are factors in the pathogenesis of schizophrenia. For example, 5-HT5A knockout mice revealed decreased locomotor response to lysergic diethylamide (LSD), which produces a psychotic-like state in healthy people. Recently, we reported a naturally occurring conservative Pro15-Ser substitution in the 5-HT5A receptor. Here, we evaluate whether this substitution is associated with schizophrenia in a sample including 249 unrelated Japanese schizophrenia patients and 253 unrelated controls. Patients and controls were genotyped for the Pro15Ser polymorphism by a PCR-RFLP assay. Ser15 allele frequencies were 0.07 in patients with schizophrenia and 0.02 in controls (χ2 = 17.42, df = 1, P < 0.0001). Thus, we detected a highly significant association of Pro15Ser to schizophrenia in a large population of Japanese schizophrenia patients and controls. Since case-control studies have an inherent potential for false-positive results due to population stratification, this finding is preliminary pending further studies, including studies using the transmission/disequilibrium test to eliminate stratification bias or control loci to assess ethnic matching of cases and controls.

AB - Several different lines of evidence suggest that genes involved in serotonergic neurotransmission are factors in the pathogenesis of schizophrenia. For example, 5-HT5A knockout mice revealed decreased locomotor response to lysergic diethylamide (LSD), which produces a psychotic-like state in healthy people. Recently, we reported a naturally occurring conservative Pro15-Ser substitution in the 5-HT5A receptor. Here, we evaluate whether this substitution is associated with schizophrenia in a sample including 249 unrelated Japanese schizophrenia patients and 253 unrelated controls. Patients and controls were genotyped for the Pro15Ser polymorphism by a PCR-RFLP assay. Ser15 allele frequencies were 0.07 in patients with schizophrenia and 0.02 in controls (χ2 = 17.42, df = 1, P < 0.0001). Thus, we detected a highly significant association of Pro15Ser to schizophrenia in a large population of Japanese schizophrenia patients and controls. Since case-control studies have an inherent potential for false-positive results due to population stratification, this finding is preliminary pending further studies, including studies using the transmission/disequilibrium test to eliminate stratification bias or control loci to assess ethnic matching of cases and controls.

UR - http://www.scopus.com/inward/record.url?scp=0035115491&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035115491&partnerID=8YFLogxK

U2 - 10.1038/sj.mp.4000829

DO - 10.1038/sj.mp.4000829

M3 - Article

C2 - 11317225

AN - SCOPUS:0035115491

VL - 6

SP - 217

EP - 219

JO - Molecular Psychiatry

JF - Molecular Psychiatry

SN - 1359-4184

IS - 2

ER -