Glazier Anne M, Nadeau Joseph H, Aitman Timothy J
Physiological Genomics and Medicine Group, MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College Faculty of Medicine, Ducane Road, London W12 0NN, UK.
Science. 2002 Dec 20;298(5602):2345-9. doi: 10.1126/science.1076641.
Phenotypic variation among organisms is central to evolutionary adaptations underlying natural and artificial selection, and also determines individual susceptibility to common diseases. These types of complex traits pose special challenges for genetic analysis because of gene-gene and gene-environment interactions, genetic heterogeneity, low penetrance, and limited statistical power. Emerging genome resources and technologies are enabling systematic identification of genes underlying these complex traits. We propose standards for proof of gene discovery in complex traits and evaluate the nature of the genes identified to date. These proof-of-concept studies demonstrate the insights that can be expected from the accelerating pace of gene discovery in this field.
生物体之间的表型变异是自然选择和人工选择背后进化适应的核心,同时也决定了个体对常见疾病的易感性。由于基因-基因和基因-环境相互作用、遗传异质性、低外显率以及统计能力有限,这些复杂性状类型给遗传分析带来了特殊挑战。新兴的基因组资源和技术能够系统地鉴定出这些复杂性状背后的基因。我们提出了复杂性状基因发现的证据标准,并评估了迄今已鉴定基因的性质。这些概念验证研究证明了从该领域加速的基因发现步伐中可以预期获得的见解。