Rare variant hypothesis for multifactorial inheritance - Susceptibility to colorectal adenomas as a model
Rare variant hypothesis for multifactorial inheritance - Susceptibility to colorectal adenomas as a model
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DOI：
10.4161/cc.4.4.1591
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发表时间：
2005-04-01
期刊：
影响因子：
4.3
通讯作者：
Bodmer, WF
中科院分区：
文献类型：
--
作者：
Fearnhead, NS;Winney, B;Bodmer, WF
罕见变异假说认为，在一般人群中，大肠癌的遗传易感性是由于各种不同基因中的一些低频变异所致。每一种变异都会使患上这种疾病的相对风险适度增加，但可以检测到。最近的证据表明，四分之一的多发性腺瘤性息肉患者是由于罕见的，但功能重要的变异，只有五个基因。
The rare variant hypothesis postulates that genetic susceptibility to colorectal neoplasia within the general population is due to a number of low frequency variants in a variety of different genes. Each variant confers a moderate, but detectable, increase in relative risk of developing the disease. Recent evidence suggests that a quarter of patients with multiple adenomatous polyps are due to rare but functionally important variants in just five genes.