New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings.
New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings.
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DOI：
10.1016/j.ejmg.2015.10.008
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发表时间：
2015-12
影响因子：
1.9
通讯作者：
Mulle JG
中科院分区：
文献类型：
--
作者：
Kotlar AV;Mercer KB;Zwick ME;Mulle JG
精神分裂症研究最近发生了转变。通过利用大样本量，常见遗传变异的全基因组关联研究使候选遗传位点的数量增加了大约三倍。罕见的变异研究已经确定了拷贝数变异是精神分裂症的危险位点。其中，3q29微缺失是目前已知的最大的精神分裂症风险因素。新一代测序研究越来越多地用于罕见变异关联检测，并且已经促进了大效等位基因的鉴定。总的来说，最近的发现暗示了电压门控钙通道和细胞骨架通路在精神分裂症的发病机制中。综上所述，这些结果表明在精神分裂症的分子理解方面即将取得突破的可能性。
Schizophrenia research has undergone a recent transformation. By leveraging large sample sizes, genome-wide association studies of common genetic variants have approximately tripled the number of candidate genetic loci. Rare variant studies have identified copy number variants that are schizophrenia risk loci. Among these, the 3q29 microdeletion is now known to be the single largest schizophrenia risk factor. Next-generation sequencing studies are increasingly used for rare variant association testing, and have already facilitated identification of large effect alleles. Collectively, recent findings implicate voltage-gated calcium channel and cytoskeletal pathways in the pathogenesis of schizophrenia. Taken together, these results suggest the possibility of imminent breakthroughs in the molecular understanding of schizophrenia.