Reference - Detail
| RRC ID | 33180 |
|---|---|
| Author | Matsuno H, Ohi K, Hashimoto R, Yamamori H, Yasuda Y, Fujimoto M, Yano-Umeda S, Saneyoshi T, Takeda M, Hayashi Y. |
| Title | A naturally occurring null variant of the NMDA type glutamate receptor NR3B subunit is a risk factor of schizophrenia. |
| Journal | PLoS One |
| Abstract |
Hypofunction of the N-methyl-D-aspartate type glutamate receptor (NMDAR) has been implicated in the pathogenesis of schizophrenia. Here, we investigated the significance of a common human genetic variation of the NMDAR NR3B subunit that inserts 4 bases within the coding region (insCGTT) in the pathogenesis of schizophrenia. The cDNA carrying this polymorphism generates a truncated protein, which is electrophysiologically non-functional in heterologous expression systems. Among 586 schizophrenia patients and 754 healthy controls, insCGTT was significantly overrepresented in patients compared to controls (odds ratio = 1.37, p = 0.035). Among 121 schizophrenia patients and 372 healthy controls, genetic analyses of normal individuals revealed that those carrying insCGTT have a predisposition to schizotypal personality traits (F1,356 = 4.69, p = 0.031). Furthermore, pre-pulse inhibition, a neurobiological trait disturbed in patients with schizophrenia, was significantly impaired in patients carrying insCGTT compared with those with the major allele (F1,116 = 5.72, p = 0.018, F1,238 = 4.46, p = 0.036, respectively). These results indicate that a naturally occurring null variant in NR3B could be a risk factor of schizophrenia. |
| Volume | 10(3) |
| Pages | e0116319 |
| Published | 2015-1-1 |
| DOI | 10.1371/journal.pone.0116319 |
| PII | PONE-D-14-22962 |
| PMID | 25768306 |
| PMC | PMC4358936 |
| MeSH | Adult Case-Control Studies Female Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Male Middle Aged Polymorphism, Single Nucleotide Receptors, N-Methyl-D-Aspartate / genetics* Schizophrenia / genetics* Schizophrenia / pathology |
| IF | 2.74 |
| Times Cited | 10 |
| WOS Category | NEUROSCIENCES |
| Altmetric score |
オルトメトリクス指標項目
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| The most frequently cited source | X(Twitter) |
| Total number of mentions | 4 |
| Altmetric score changes over past 6months | 0.0 |
| Resource | |
| DNA material | human RBd38E01 (HKR375297) |
| Human and Animal Cells | Y79(RCB1645) |