天津医药

天津医药 ›› 2015, Vol. 43 ›› Issue (7): 810-814.doi: 10.11958/j.issn.0253-9896.2015.07.030

• 综述 • 上一篇    下一篇

后全基因组病例对照研究时代的功能研究策略

刘佳宇，张丽娜，郑红   

  1. 1 天津医科大学肿瘤医院， 肿瘤研究所肿瘤分子流行病与生物统计研究室， 国家肿瘤临床研究中心， 天津市肿瘤防治重点实验室
    2天津医科大学研究生院；
    3 天津医科大学肿瘤医院乳腺外科



  • 收稿日期:2015-02-09 修回日期:2015-04-16 出版日期:2015-07-15 发布日期:2015-07-15
  • 通讯作者: 郑红 1△ E-mail:zhengh64@aliyun.com
  • 基金资助:
    染色体12q14.2区多态性与卵巢癌易感性关系及功能研究

Research strategy of the case-control post-genome-wide association study

LIU Jiayu, ZHANG Lina, ZHENG Hong   

  1. 1 Department of Epidemiology and Biostatistics, Tianjin Medical University Cancer Institute and Hospital, Tianjin China; 
    2 Graduate School, Tianjin Medical University; 
    3 Department of Breast Cancer, National Clinical Research Center for     Cancer, The Key Laboratory of Breast Cancer Prevention and Therapy, Ministry of Education, Tianjin Key Laboratory of Cancer Prevention and Therapy

  • Received:2015-02-09 Revised:2015-04-16 Published:2015-07-15 Online:2015-07-15
  • Contact: ZHENG Hong1△ E-mail:zhengh64@aliyun.com

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摘要： 自首次报道了有关人类年龄相关性黄斑变性的全基因组关联研究（GWAS）以来， 人们通过 GWAS 方法发现并鉴定了大量与人类复杂性疾病关联的遗传变异。 但是， 对这些遗传变异位点的生物学功能尚不十分清楚。 本文重点介绍了在后 GWAS 时代， 对疾病易感基因位点进行精细定位的方法和功能学研究进展。 在后 GWAS 时代， 遗传机制研究可以帮助临床深入地理解疾病的发病机制。

关键词: 基因组, 病例对照研究, 多态性, 单核苷酸, 全基因组关联研究, 精细定位, 功能研究, 易感基因, 综述

Abstract: Since the first paper reported the finding of genetic variation contributing to human age-related macular de⁃generation by genome-wide association study (GWAS) in 2005, large number of human complex diseases associated genetic variants have been identified through GWAS method. However, the biological function of these genetic variants is not very clear. The present paper reviewed the methods of fine-mapping and the progress of the functional studies for these suscepti⁃bility variants. In the post GWAS Era, the study of genetic mechanisms can help us to understand the disease pathogenesis.

Key words: genome, case-control studies, polymorphism, single nucleotide, genome-wide association study, fine map?ping, functional study, susceptibility gene, review