Benyamin Beben, Visscher Peter M, McRae Allan F
Queensland Statistical Genetics Laboratory, Queensland Institute of Medical Research, 300 Herston Road, Brisbane, QLD 4029, Australia.
Pharmacogenomics. 2009 Feb;10(2):181-90. doi: 10.2217/14622416.10.2.181.
In the last 2 years, the effort to identify genes affecting common diseases and complex traits has been accelerated through the use of genome-wide association studies (GWAS). The availability of existing large collections of linkage data paved the way for the use of family-based GWAS. Although most published GWAS used population-based designs, family-based designs have played an important role, particularly in replication stages. Family-based designs offer advantages in terms of quality control, the robustness to population stratification and the ability to perform genetic analyses that cannot be achieved using a sample of unrelated individuals, such as testing for the effect of imprinted genes on phenotypes, testing whether a genetic variant is inherited or de novo and combined linkage and association analysis.
在过去两年中,通过使用全基因组关联研究(GWAS),识别影响常见疾病和复杂性状的基因的工作加速推进。现有的大量连锁数据为基于家系的GWAS的应用铺平了道路。尽管大多数已发表的GWAS采用基于人群的设计,但基于家系的设计也发挥了重要作用,尤其是在复制阶段。基于家系的设计在质量控制、对群体分层的稳健性以及进行使用无关个体样本无法实现的基因分析方面具有优势,例如检测印迹基因对表型的影响、检测遗传变异是遗传的还是新生的以及联合连锁和关联分析。