A genetic variant of the serine racemase gene is associated with schizophrenia
| Autor: | Yukitaka Morita, Masayuki Matsushita, Yuko Okahisa, Akiko Morikawa, Akiko Morio, Yuji Tanaka, Kyohei Otani, Tatsuya Kotaka, Hiroshi Ujike, Makiko Kishimoto, Shigetoshi Kuroda, Kiyoshi Zaitsu, Kenji Hamase |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Psychosis Genotype Racemases and Epimerases Gene Expression Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Serine mental disorders medicine Humans Allele Receptor Promoter Regions Genetic Gene Biological Psychiatry Alleles Genetics Reporter gene Schizophrenia Paranoid Schizophrenia Disorganized Middle Aged medicine.disease Serine racemase Female |
| Zdroj: | Biological psychiatry. 61(10) |
| ISSN: | 0006-3223 |
| Popis: | Background Serine racemase (SRR) is a brain-enriched enzyme that converts l -serine to d -serine, which acts as an endogenous ligand of N-methyl d -aspartate (NMDA) receptors. Dysfunction of SRR may reduce the function of NMDA receptors and susceptibility to schizophrenia. Methods We genotyped three single-nucleotide polymorphisms (SNPs) of the 5′ region of the SRR gene in 525 patients with schizophrenia and 524 healthy controls. Effects of SNPs on the promoter activity and on serum levels of total and d -serine were examined. Results We found a significant excess of the IVS1a+465C allele of the SRR gene in schizophrenia, especially in the paranoid subtype (p = .0028). A reporter assay showed that the IVS1a+465C allele had 60% lower promoter activity than did the IVS1a+465G allele. Conclusions The IVS1a+465C allele of the SRR gene, which reduces expression of the gene, is a risk factor for schizophrenia, especially the paranoid subtype. |
| Databáze: | OpenAIRE |
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