Common vs. rare allele hypotheses for complex diseases.
Common vs. rare allele hypotheses for complex diseases.
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DOI：
10.1016/j.gde.2009.04.010
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发表时间：
2009-06
影响因子：
4
通讯作者：
Topol, Eric J.
中科院分区：
文献类型：
--
作者：
Schork, Nicholas J.;Murray, Sarah S.;Frazer, Kelly A.;Topol, Eric J.
关于遗传因素对个体易患糖尿病、骨质疏松症和癌症等常见复杂疾病的影响，人们的争论越来越多。“常见病，常见变异（CDCV）”假说认为，遗传变异在人群中具有明显的频率，但相对较低的“突变率”（或相关变异的携带者将表达疾病的概率）是常见疾病遗传易感性的主要贡献者。另一方面，“常见病，罕见变异（CDRV）”假说认为，多种罕见的DNA序列变异，每种变异都具有相对较高的变异率，是常见疾病遗传易感性的主要贡献者。这两种假设在目前的研究工作中都有其地位。
There has been growing debate over the nature of the genetic contribution to individual susceptibility to common complex diseases such as diabetes, osteoporosis, and cancer. The ‘Common Disease, Common Variant (CDCV)’ hypothesis argues that genetic variations with appreciable frequency in the population at large, but relatively low ‘penetrance’ (or the probability that a carrier of the relevant variants will express the disease), are the major contributors to genetic susceptibility to common diseases. The ‘Common Disease, Rare Variant (CDRV)’ hypothesis, on the other hand, argues that multiple rare DNA sequence variations, each with relatively high penetrance, are the major contributors to genetic susceptibility to common diseases. Both hypotheses have their place in current research efforts.
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影响因子：
64.8
作者：
Cook, Edwin H., Jr.;Scherer, Stephen W.
通讯作者：
Scherer, Stephen W.
影响因子：
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影响因子：
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通讯作者：
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通讯作者：
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