Tianjin Medical Journal

Tianjin Medical Journal ›› 2015, Vol. 43 ›› Issue (7): 810-814.doi: 10.11958/j.issn.0253-9896.2015.07.030

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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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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