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GWAS in cancer: progress and challenges.
Molecular Genetics and Genomics ( IF 2.3 ) Pub Date : 2020-02-11 , DOI: 10.1007/s00438-020-01647-z
Baiqiang Liang 1, 2, 3 , Hongrong Ding 2, 4 , Lianfang Huang 1, 2 , Haiqing Luo 3 , Xiao Zhu 1, 2, 4
Affiliation  

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.

中文翻译:

GWAS在癌症中的发展和挑战。

全基因组关联研究(GWAS)是检测基于连锁不平衡(LD)的多个单个基因的单核苷酸多态性(SNP)的有效方法。GWAS检查疾病中表现出的基因型并区分基因特征。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。尽管已通过GWAS鉴定了许多与复杂表型相关的多效性基因座,但许多遗传变异基因座的生物学功能仍不清楚,并且大多数系统性表型的遗传机制尚无法系统地解释。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。我们联系了各种肿瘤的作用机制,并寻找与相关基因表达途径的联系。我们发现易感位点可以分为中心基因和周围基因。两者相互作用以链接多种疾病中的基因表达。
更新日期:2020-02-11
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