Ohara Hiroki, Nabika Toru
Department of Functional Pathology, Faculty of Medicine, Shimane University, Izumo 693-8501, Japan.
Biomedicines. 2022 Aug 1;10(8):1855. doi: 10.3390/biomedicines10081855.
Genetic manipulation is one of the indispensable techniques to examine gene functions both in vitro and in vivo. In particular, cardiovascular phenotypes such as blood pressure cannot be evaluated in vitro system, necessitating the creation of transgenic or gene-targeted knock-out and knock-in experimental animals to understand the pathophysiological roles of specific genes on the disease conditions. Although genome-wide association studies (GWAS) in various human populations have identified multiple genetic variations associated with increased risk for hypertension and/or its complications, the causal links remain unresolved. Genome-editing technologies can be applied to many different types of cells and organisms for creation of knock-out/knock-in models. In the post-GWAS era, it may be more worthwhile to validate pathophysiological implications of the risk variants and/or candidate genes by creating genome-edited organisms.
基因操作是在体外和体内研究基因功能不可或缺的技术之一。特别是，诸如血压等心血管表型无法在体外系统中评估，因此需要创建转基因或基因靶向敲除和敲入实验动物，以了解特定基因在疾病状态下的病理生理作用。尽管在不同人群中进行的全基因组关联研究（GWAS）已经确定了多个与高血压和/或其并发症风险增加相关的基因变异，但其因果关系仍未解决。基因组编辑技术可应用于许多不同类型的细胞和生物体，以创建敲除/敲入模型。在GWAS后的时代，通过创建基因组编辑生物体来验证风险变异和/或候选基因的病理生理意义可能更有价值。
