中国常见肿瘤的全基因组关联研究进展  

Advances in genome-wide association studies of cancer in Chinese population

作　　者：李娇元[1] 缪小平[1] 林东昕[2] 

机构地区：[1]华中科技大学同济医学院公共卫生学院流行病与卫生统计学系,武汉430030 [2]中国医学科学院中国协和医科大学肿瘤医院肿瘤研究所病因及癌变研究室,癌发生及预防分子机理北京市重点实验室,北京100730

出　　处：《自然杂志》2015年第1期1-7,共7页Chinese Journal of Nature

摘　　要：肿瘤的遗传学病因复杂,全面系统地了解遗传变异在肿瘤发生中的作用是一项艰巨任务。全基因组关联研究(genome-wide association study,GWAS)在全基因组水平探讨常见单核苷酸多态性与疾病或其他表型的关联,为了解复杂性疾病的发病机制提供新策略。针对不同肿瘤的GWAS,验证了一些基于候选策略所发现的肿瘤相关变异,发现了一系列新的肿瘤易感基因或染色体区域。主要介绍在中国人群中开展的肿瘤GWAS所取得的一些成果,并在此基础上阐述GWAS为中国常见恶性肿瘤遗传病因学研究带来的机遇与挑战。Genetic etiology of human cancer remains largely unclear. It is a big challenge to elucidate the roles of genetic variants in the development of cancer comprehensively and systematically. Genome-wide association studies explore the correlation between common single nucleotide polymorphisms（SNPs） and risk of a specific cancer in a whole genome scale, providing new insights into the pathogenesis of the complex disease. Recently, GWAS has produced an impressive list of unexpected genes and chromosome regions which are associated with cancer susceptibility. This review paper introduces the published cancer GWAS in the Chinese populations and summarizes their major achievements in this field. In addition, we try to discuss the opportunities and challenges that brought by GWAS.

关 键 词：肿瘤 病因学 中国人群 全基因组关联研究 

分 类 号：R730.2[医药卫生—肿瘤]