Elsevier

Biological Psychiatry

Volume 67, Issue 3, 1 February 2010, Pages 283-286
Biological Psychiatry

Brief Report
Copy Number Variation in Schizophrenia in the Japanese Population

https://doi.org/10.1016/j.biopsych.2009.08.034Get rights and content

Background

Copy number variants (CNVs) have been shown to increase the risk to develop schizophrenia. The best supported findings are at 1q21.1, 15q11.2, 15q13.3, and 22q11.2 and deletions at the gene neurexin 1 (NRXN1).

Methods

In this study, we used Affymetrix 5.0 arrays to investigate the role of rare CNVs in 575 patients with schizophrenia and 564 control subjects from Japan.

Results

There was a nonsignificant trend for excess of rare CNVs in schizophrenia (p = .087); however, we did not confirm the previously implicated association for very large CNVs (>500 kilobase [kb]) in this population. We provide support for three previous findings in schizophrenia, as we identified one deletion in a case at 1q21.1, one deletion within NRXN1, and four duplications in cases and one in a control subject at 16p13.1, a locus first implicated in autism and later in schizophrenia.

Conclusions

In this population, we support some of the previous findings in schizophrenia but could not find an increased burden of very large (>500 kb) CNVs, which was proposed recently. However, we provide support for the role of CNVs at 16p13.1, 1q21.1, and NRXN1.

Section snippets

Methods and Materials

We analyzed 1139 age- and gender-matched unrelated subjects of Japanese ethnicity (575 schizophrenic patients and 564 control subjects). Control subjects were members of the general public who had no personal history of mental disorders. This was ascertained during face-to-face interviews where subjects were asked if they had suffered an episode of depression, mania, or psychotic experiences or if they had received treatment for any psychiatric disorder. Patients were entered into the study if

Results

The numbers of rare CNVs stratified by size in cases and control subjects are listed in Table 1. Overall, we found an excess of CNVs in subjects with schizophrenia (case-control ratio = 1.16). Although not significant (p = .087, one-tailed permutation test), this is similar to that reported by the largest CNV study (4) where the case-control ratio was 1.15. The effect in that study (4) was coming mostly from deletions >500 kb and duplications in the 100 kb to 200 kb range. No subcategory of CNV

Discussion

In this study, we do not find a significant increase in the burden of CNVs in schizophrenia, either overall or for any specific size range of CNVs, as proposed in previous studies (2, 3, 4, 7). We did, however, find several trends in the same direction and of a similar magnitude as the largest global CNV survey of schizophrenia (4). Not all research has found such an increased burden, e.g., no evidence was obtained from a study in the Chinese population (5). It is possible that genuine

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