Copy number variations and risk of schizophrenia: an analysis in a multiplex pedigree and a following case-control study

精神分裂症是一种具有复杂遗传病因的严重神经精神障碍。最近的研究表明，与精神分裂症相关的罕见或大型(&gt；500kb或&gt；1Mb)拷贝数变异(CNV)。在之前的研究中，我们对一个日本多发性CNV家系进行了全基因组范围的CNV筛查，在该家系中发现了两个大的(&gt；500kb)CNV(1q21.2；505kb和16q11.2；1180kb)。我们在受影响和未受影响的个体中都发现了CNV的缺失(一个拷贝)。接下来，我们检测了646名精神分裂症患者和674名对照组的CNV。然而，CNV与精神分裂症之间没有显著的关联。此外，这些CNV在我们的日本对照样本中也很常见。

Schizophrenia is a severe neuropsychiatric disorder with complex genetic etiology. Recent studies have revealed that rare or large (>500kb or >1Mb) copy number variations (CNVs) associated with schizophrenia. In a previous study, we have conducted a genome-wide CNV screening in a Japanese multiplex pedigree and have found two large (>500kb) CNVs (1q21.2; 505 kb and 16q11.2; 1,180 kb) in this pedigree.Here, we identified copy numbers of these two CNVs in the multiplex pedigree using real-time polymerase chain reaction method. We found deletions (one copy) of both CNVs in affected and unaffected individuals. Next, we assayed these CNVs in 646 schizophrenia individuals and 674 control individuals. However, there were no significant association between the CNVs and schizophrenia. Also these CNVs are common in our Japanese control samples.