Genome-wide association studies in cancer
Genome-wide association studies in cancer
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DOI：
10.1093/hmg/ddn287
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发表时间：
2008-10-15
影响因子：
3.5
通讯作者：
Eeles, Rosalind A.
中科院分区：
文献类型：
--
作者：
Easton, Douglas F.;Eeles, Rosalind A.
全基因组关联研究提供了一种强大的方法来识别常见的低外显性疾病基因座，而不需要事先知道位置或功能。已经在五种最常见的癌症类型：乳腺癌、前列腺癌、结直肠癌和肺癌以及黑色素瘤中进行了GWA，并发现了20多个新的疾病位点，证实了这些疾病的易感性是多基因的。其中许多基因座是在低功率下检测到的，这表明更多的基因座可能会在更大的研究中被检测到。在很大程度上，这些基因座以前并没有被怀疑与癌症发生有关，而是指向了新的疾病机制。易感等位基因带来的风险很低，通常是1.3倍或更低。然而，联合效应可能足够大，足以用于风险预测、有针对性的筛查和预防，特别是在确定更多基因座的情况下。
Genome-wide association studies (GWAS) provide a powerful approach to identify common, low-penetrance disease loci without prior knowledge of location or function. GWAS have been conducted in five of the commonest cancer types: breast, prostate, colorectal and lung, and melanoma, and have identified more than 20 novel disease loci, confirming that susceptibility to these diseases is polygenic. Many of these loci were detected at low power, indicating that many further loci will probably be detected with larger studies. For the most part, the loci were not previously suspected to be related to carcinogenesis, and point to new disease mechanisms. The risks conferred by the susceptibility alleles are low, generally 1.3-fold or less. The combined effects may, however, be sufficiently large to be useful for risk prediction, and targeted screening and prevention, particularly as more loci are identified.