Evans David M, Cardon Lon R
The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.
Trends Genet. 2006 Jul;22(7):350-4. doi: 10.1016/j.tig.2006.05.001. Epub 2006 May 19.
A recent study by Cheung et al. demonstrates how to identify expression quantitative trait loci (eQTLs) underlying gene expression phenotypes through a combination of genome-wide linkage analysis and subsequent fine mapping or by genome-wide association (GWA) analysis. This study emphasizes the complexity of human traits, highlighting the challenges faced by investigators--in particular, insufficient linkage disequilibrium between the trait and marker variant, genetic heterogeneity and correcting for multiple testing will all adversely impact the power to detect loci by association. These issues must be considered carefully if the GWA approach is to succeed in mapping complex phenotypes.
张等人最近的一项研究展示了如何通过全基因组连锁分析及后续的精细定位，或通过全基因组关联（GWA）分析来识别基因表达表型背后的表达数量性状基因座（eQTL）。这项研究强调了人类性状的复杂性，突出了研究人员面临的挑战——特别是性状与标记变异之间连锁不平衡不足、遗传异质性以及多重检验校正都会对通过关联检测基因座的能力产生不利影响。如果GWA方法要成功地绘制复杂表型，就必须仔细考虑这些问题。
