Abstract
NMDA receptor dysfunction may be involved in the pathophysiology of schizophrenia. Based on this hypothesis, we screened 48 Japanese patients with schizophrenia for mutations in the coding region of the NMDAR2B subunit gene (GRIN2B). An association study between the identified DNA sequence variants and schizophrenia was performed in 268 Japanese patients with schizophrenia and 337 Japanese control subjects. Eight single nucleotide polymorphisms were detected, all of which were synonymous. The association sample showed statistically significant excesses of homozygosity for the polymorphisms in the 3’ region of the last exon in the patients with schizophrenia (P = 0.004) and higher frequency of the G allele of the 366C/G polymorphism (corrected P = 0.04) in the patients than in the controls. Although we did not detect NMDAR2B protein variants, our findings support the possibility that the GRIN2B gene or a locus in linkage disequilibrium with it may confer susceptibility to schizophrenia. Replication studies in independent samples are warranted.
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Acknowledgements
We thank Drs M Itokawa, J Aoki, H Shibuya, Y Okubo, A Iwawaki, K Ota for recruiting the subjects. This study was supported by the Research Grants for Nervous and Mental Disorders from the Ministry of Health and Welfare of Japan, and by Grant-in-Aid for Scientific Research, Ministry of Education, Japan.
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Ohtsuki, T., Sakurai, K., Dou, H. et al. Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia. Mol Psychiatry 6, 211–216 (2001). https://doi.org/10.1038/sj.mp.4000808
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DOI: https://doi.org/10.1038/sj.mp.4000808
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