Genetic research targeting schizophrenia has undergone tremendous development during recent years. Supported by recently developed high-throughput genotyping technologies, both rare and common genetic variants have been identified that show consistent association with schizophrenia. These results have been replicated by independent studies and refined in meta-analyses. The genetic variation uncovered consists of common alleles, i.e. single nucleotide polymorphisms (SNPs) conveying small effects (odds ratios below 1.1) on disease risk. The source of rare variants is copy number variations (CNVs), only detectable in a small proportion of patients (3-5% for all known CNVs) with schizophrenia, furthermore extremely rare de novo mutations captured by next generation sequencing, the most recent technological advancement in the field. Despite these findings, the search for the genetic architecture underlying schizophrenia continues since these variants explain only a small proportion of the overall phenotypic variance. Gene-environment interactions provide a compelling model for resolving this paradox and interpreting the risk factors of schizophrenia. Epidemiologically proven risk factors, such as prenatal infection, obstetric complications, urbanicity, cannabis, and trauma have been demonstrated to interact with genetic risk, giving rise to higher prevalence rates or more severe symptomatology in individuals with direct or indirect genetic predisposition for schizophrenia. Further research will have to explain how the different forms of genetic variation interact and how environmental factors modulate their effects. Moreover, the challenging question lying ahead of us is how genetic and environmental factors translate to molecular disease pathways. New approaches, including animal studies and in vitro disease modeling, as well as innovative real-world environment assessment methods, will help to understand the complex etiology of schizophrenia.

译文

近年来,针对精神分裂症的基因研究取得了巨大发展。在最近开发的高通量基因分型技术的支持下,已经鉴定出与精神分裂症具有一致关联的稀有和常见遗传变异。这些结果已被独立研究复制,并在荟萃分析中得到完善。未发现的遗传变异由共同等位基因组成,即单核苷酸多态性 (snp) 对疾病风险传递小影响 (比值比低于1.1)。罕见变体的来源是拷贝数变异 (cnv),仅在一小部分精神分裂症患者 (所有已知cnv为3-5%) 中可检测到,此外,通过下一代测序 (该领域的最新技术进步) 捕获的极其罕见的从头突变。尽管有这些发现,但由于这些变体仅解释了总体表型差异的一小部分,因此对精神分裂症基础的遗传结构的搜索仍在继续。基因-环境相互作用为解决这一悖论和解释精神分裂症的危险因素提供了一个令人信服的模型。经流行病学证实的危险因素,例如产前感染,产科并发症,城市化,大麻和创伤,已被证明与遗传风险相互作用,导致具有直接或间接遗传倾向的精神分裂症个体的患病率更高或更严重的症状。进一步的研究将必须解释不同形式的遗传变异如何相互作用以及环境因素如何调节其影响。此外,摆在我们面前的一个具有挑战性的问题是遗传和环境因素如何转化为分子疾病途径。新方法,包括动物研究和体外疾病建模,以及创新的现实环境评估方法,将有助于了解精神分裂症的复杂病因。

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