Association of a 5-HT5A receptor polymorphism, Pro15Ser, to schizophrenia
- 1 March 2001
- journal article
- Published by Springer Science and Business Media LLC in Molecular Psychiatry
- Vol. 6 (2), 217-219
- https://doi.org/10.1038/sj.mp.4000829
Abstract
Several different lines of evidence suggest that genes involved in serotonergic neurotransmission are factors in the pathogenesis of schizophrenia. For example, 5-HT(5A) 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 Pro15Ser substitution in the 5-HT(5A) 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 (chi(2) = 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.Keywords
This publication has 12 references indexed in Scilit:
- Association Mapping in Structured PopulationsAmerican Journal of Human Genetics, 2000
- The Power of Genomic ControlAmerican Journal of Human Genetics, 2000
- Candidate-Gene Association Studies of SchizophreniaAmerican Journal of Human Genetics, 1999
- Use of Unlinked Genetic Markers to Detect Population Stratification in Association StudiesAmerican Journal of Human Genetics, 1999
- Increased Exploratory Activity and Altered Response to LSD in Mice Lacking the 5-HT5A ReceptorNeuron, 1999
- Identification of a naturally occurring Pro15–Ser15 substitution in the serotonin5A receptor gene in alcoholics and healthy volunteersMolecular Brain Research, 1998
- Genetic Polymorphisms and DiseaseNew England Journal of Medicine, 1998
- Human 5-HT5AReceptor Gene: Systematic Screening for DNA Sequence Variation and Linkage Mapping on Chromosome 7q34–q36 Using a Polymorphism in the 5′ Untranslated RegionBiochemical and Biophysical Research Communications, 1997
- The molecular genetics of schizophreniaJournal of Molecular Neuroscience, 1996
- Two members of a distinct subfamily of 5-hydroxytryptamine receptors differentially expressed in rat brain.Proceedings of the National Academy of Sciences of the United States of America, 1993