精神分裂症和其他精神疾病的遗传原因是复杂的，是人们所很不了解的；而且，由于复制速度降低对风险等位基因造成负选择压力，这些疾病的研究难度进一步增大。迄今为止，虽然一些版本号变化已被与精神分裂症联系了起来，但研究工作相对较少。
现在，由两个国际合作课题组对数以千计的患者和对照组所做的两项独立的大规模基因组范围的研究工作，证实了一个以前识别出来的位点，而且揭示了新的关联性。在第一项研究（由DeCODE 和SGENE合作进行）中，研究人员在1号和15号染色体上发现了自然的版本号变异体。在第二项研究（由“国际精神分裂症联盟”进行）中，研究人员在这些染色体上还发现了基因删除，同时发现基因组中版本号变异的总体频率较大。（生物谷Bioon.com）
生物谷推荐原始出处：
Nature 455, 232-236 (11 September 2008) | doi:10.1038/nature07229
Large recurrent microdeletions associated with schizophrenia
Reduced fecundity, associated with severe mental disorders1, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism2, schizophrenia3 and mental retardation4. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation4, 5 and autism2. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia.
