Guangdong Key Laboratory for Research and Development of Natural Drugs, Guangdong Medical University, Zhanjiang, 524023, China.
The Marine Biomedical Research Institute, Southern Marine Science and Engineering Guangdong Laboratory Zhanjiang, Guangdong Medical University, Zhanjiang, 524023, China.
Mol Genet Genomics. 2020 May;295(3):537-561. doi: 10.1007/s00438-020-01647-z. Epub 2020 Feb 11.
The genome-wide association study (GWAS) is an effective method to detect single-nucleotide polymorphisms (SNPs) of multiple individual genes based on linkage disequilibrium (LD). GWAS examines genotypes and distinguishing gene characteristics that are exhibited in diseases. In the past few decades, more and more literature has reported the results of applying GWAS to study tumors. Although many pleiotropic loci associated with complex phenotypes have been identified by GWAS, the biological functions of many genetic variation loci remain unclear, and the genetic mechanisms of most complex phenotypes cannot be systematically explained. In this article, we will review the new findings of several tumor types, and categorize the new sites and mechanisms that have recently been discovered. We linked the mechanisms of action of various tumors and searched for links to related gene expression pathways. We found that susceptible sites can be divided into hub genes and peripheral genes; the two interact to link gene expression in a variety of diseases.
全基因组关联研究（GWAS）是一种基于连锁不平衡（LD）检测多个个体基因中单核苷酸多态性（SNP）的有效方法。GWAS 检查基因型和在疾病中表现出的基因特征的差异。在过去的几十年中，越来越多的文献报道了应用 GWAS 研究肿瘤的结果。尽管 GWAS 已经确定了许多与复杂表型相关的多效性位点，但许多遗传变异位点的生物学功能仍不清楚，大多数复杂表型的遗传机制也无法系统解释。在本文中，我们将回顾几种肿瘤类型的新发现，并对最近发现的新位点和机制进行分类。我们将各种肿瘤的作用机制联系起来，并搜索与相关基因表达途径的联系。我们发现，易感位点可以分为枢纽基因和外围基因；两者相互作用，将多种疾病中的基因表达联系起来。
