Copy number variation and risk of schizophrenia : a genome-wide analysis in a multiplex pedigree

我们在一个多重精神分裂症家系中进行了全基因组拷贝数变异(CNV)筛查，并进行了后续的病例对照研究。在基因芯片筛选中，我们发现了一种可能与精神分裂症共分离的CNV。我们通过TaqMan实时定量聚合酶链式反应分析了这一CNV，发现在6个受影响的人中有5个人和1个情感状态未知的人的CNV完全缺失。我们还对627例精神分裂症患者和620名健康对照进行了病例对照研究。CNV基因的完全缺失与精神分裂症之间没有明显的联系。综上所述，这些结果表明，CNV可能不会增加精神分裂症的易感性。

We conducted a genome-wide copy number variation (CNV) screening in a large multiplex schizophrenia pedigree and performed a follow up case-control study. In screening using microarray method, we found a CNV which potentially co-segregated with schizophrenia. We analyzed This CNV by means of a TaqMan real-time PCR assay and found complete deletions of CNVs in five of six affected individuals and an individual with affection status of unknown. We also conducted a case-control study in 627 patients of schizophrenia and 620 healthy controls. There was no significant association between complete deletions of the CNVs and schizophrenia. Taken together, these results suggest that the CNV may not confer increased susceptibility to schizophrenia.