Genome-wide association studies and colorectal cancer.

Genome-wide association studies and colorectal cancer.
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DOI:
10.1016/j.soc.2009.07.004
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发表时间:
2009-10
影响因子:
1.9
通讯作者:
Le Marchand, Loic
Le Marchand, Loic
中科院分区:
医学4区
文献类型:
--
作者:
Le Marchand, Loic

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全基因组关联研究(GWAS)提供了一种强有力的新方法,以确定共同的,低频率的易感基因座,而无需事先了解生物学功能。在欧洲血统人群中进行的三次GWAS的结果可用于结直肠癌(CRC)。这些研究已经确定了11个疾病位点,其中大多数先前未被怀疑与CRC相关。由这些基因座解释的家族和群体风险的比例很小,目前它们对风险预测没有用处。然而,这些研究的功效较低,表明在新进行的GWAS和汇总分析中可能鉴定出许多其他基因座。因此,随着更多变异的发现,GWAS中鉴定的CRC易感性标志物的风险预测能力可能会提高。这反过来可能对针对高风险个体进行结肠镜筛查具有重要意义。
Genome-wide association studies (GWAS) provide a powerful new approach to identify common, low-penetrance susceptibility loci without prior knowledge of biological function. Results from three GWAS conducted in populations of European ancestry are available for colorectal cancer (CRC). These studies have identified eleven disease loci which, for the majority, were not previously suspected to be related to CRC. The proportions of the familial and population risks explained by these loci are small and they currently are not useful for risk prediction. However, the power of these studies was low indicating that a number of other loci may be identified in new on-going GWAS, and in pooled analyses. Thus, the risk prediction ability of susceptibility markers identified in GWAS for CRC may improve as more variants are discovered. This may in turn have important implications for targeting high risk individuals for colonoscopy screening.
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