Copy Number Variation in Schizophrenia in the Japanese Population
Copy Number Variation in Schizophrenia in the Japanese Population
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DOI：
10.1016/j.biopsych.2009.08.034
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发表时间：
2010-02-01
影响因子：
10.6
通讯作者：
Iwata, Nakao
中科院分区：
文献类型：
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作者：
Ikeda, Masashi;Aleksic, Branko;Iwata, Nakao
背景：拷贝数变异（CNVs）已被证明可增加患精神分裂症的风险。最受支持的发现是在1q21.1, 15q11.2, 15q13.3和22q11.2以及neurexin 1 （NRXN1）基因缺失。方法：本研究采用Affymetrix 5.0芯片对575例日本精神分裂症患者和564例对照进行罕见CNVs的研究。结果：精神分裂症患者中罕见CNVs的过量趋势无统计学意义（p = 0.087）；然而，我们没有证实先前在该人群中涉及的非常大的CNVs （bb0 500千碱基[kb]）的关联。我们为之前在精神分裂症中的三个发现提供了支持，因为我们在一个病例中发现了1q21.1的缺失，在NRXN1中发现了一个缺失，在病例中发现了四个重复，在对照组中发现了一个16p13.1的重复，这个位点最初与自闭症有关，后来与精神分裂症有关。结论：在这一人群中，我们支持先前在精神分裂症中的一些发现，但没有发现最近提出的非常大（bb0 500kb） CNVs的负担增加。然而，我们支持cnv在16p13.1, 1q21.1和NRXN1上的作用。
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.