Measures of genotype versus gene products: promise and pitfalls in cancer prevention.
Measures of genotype versus gene products: promise and pitfalls in cancer prevention.
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基因型与基因产物的测量：癌症预防的希望和陷阱。
DOI：
10.1093/carcin/bgg104
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Rundle,AndrewG
中科院分区：
文献类型：
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作者：
Ahsan,Habibul;Rundle,AndrewG
我们提出了一个关键的评估的承诺和陷阱的基因型与基因功能的措施在癌症流行病学研究。虽然这两种措施都有利弊，是互补的，在潜在的贡献知识，直接导致预防方面，我们认为，应注意研究相关的功能参数（单一蛋白质表达，功能或表型检测或模式的基因/蛋白质表达）的疾病风险。我们提出的理论和概念的基础，为什么研究集中在低突变率基因的多态性可能在逻辑上不那么富有成效的癌症预防比适当设计的研究，使用验证的功能参数。然后，我们证实了这些论点与一些具体的例子，根据目前的文献。我们还讨论了在流行病学研究中包括功能参数的局限性，以及在这些研究真正实现其承诺之前所需的技术改进。最后，我们对该领域未来的研究方向提出了一些具体的建议。
We present a critical assessment of the promise and pitfalls of genotype versus gene function measures in cancer epidemiology studies. While both measures have pros and cons and are complementary, in terms of potential for contributing knowledge that directly leads to prevention, we argue that attention should be given to research relating functional parameters (single protein expression, functional or phenotypic assays or patterns of gene/protein expression) to disease risk. We present the theoretical and conceptual basis of why studies focusing on polymorphisms in the low-penetrance genes may be logically less fruitful for making inroads to cancer prevention than appropriately designed studies using validated functional parameters. We then substantiate these arguments with some concrete examples based on the current literature. We also discuss the limitations of including functional parameters in epidemiological studies and technical improvements required before such studies can truly fulfil their promise. Finally, we offer some specific recommendations for future research directions in this area.