Human genome epidemiology, progress and future

• 来源期刊: 生物医学研究杂志（英文版）
• 年，卷（期）: 2013,（3）
• 页码范围: 167-169
• 页数: 3页
• 语种: 英文
• DOI: 10.7555/JBR.27.20130040

摘要

Human genome epidemiology (HUGE) uses systematic applications of epidemiologic methods to assess the impact of human genetic variation on health and disease.In the past ten years,human genome epidemiology has made great progresses along with advances in genomics technologies,which make it possible for the examination of genetic variants in a large sample size at a sufficiently low cost.Genetic association study in population provides a powerful approach to identify variants or genes associated with disease of interest by comparing distributions of genetic variants between affected and unaffected individuals.A critical question remains that these findings from genetic association studies are not consistently reproducible,possibly due to false positive,false negative or true variability in association among different populations.Before 2006,only few low penetrance variants outside the HLA locus had been discovered to be reproducibly associated with disease susceptibility based on the candidate gene approach[1].