Common and rare variants in multifactorial susceptibility to common diseases.
Common and rare variants in multifactorial susceptibility to common diseases.
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作者：
在这里，我们给出了一个历史性的概述搜索遗传变异，影响个体的易感性慢性疾病，从RA费舍尔的开创性工作，目前的兴奋全基因组关联研究（WGAS）。然后，我们讨论了常见变异作为疾病因果因素的识别背后的概念，并将其与罕见变异假设的基本思想进行了对比。罕见变异的鉴定涉及仔细选择待检查的候选基因、高效重测序技术的可用性以及对所涉变异的功能后果的适当评估。我们相信，这一策略目前可以成功应用，以揭示罕见变异对常见疾病多因素遗传的贡献，这可能导致实施急需的预防性筛查计划。
Here, we give a historical overview of the search for genetic variants that influence the susceptibility of an individual to a chronic disease, from RA Fisher's seminal work to the current excitement of whole-genome association studies (WGAS). We then discuss the concepts behind the identification of common variants as disease causal factors and contrast them to the basic ideas that underlie the rare variant hypothesis. The identification of rare variants involves the careful selection of candidate genes to examine, the availability of highly efficient resequencing techniques and the appropriate assessment of the functional consequences of the implicated variant. We believe that this strategy can be successfully applied at present in order to unravel the contribution of rare variants to the multifactorial inheritance of common diseases, which could lead to the implementation of much needed preventative screening schemes.
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影响因子：
30.8
作者：
Stratton, Michael R.;Rahman, Nazneen
通讯作者：
Rahman, Nazneen
DOI：
10.1073/pnas.95.18.10722
发表时间：
1998-09-01
影响因子：
11.1
作者：
Frayling, IM;Beck, NE;Tomlinson, IPM
通讯作者：
Tomlinson, IPM
影响因子：
4.3
作者：
Fearnhead, NS;Winney, B;Bodmer, WF
通讯作者：
Bodmer, WF
DOI：
10.1186/bcr1826
发表时间：
2007
期刊：
Breast cancer research : BCR
影响因子：
--
作者：
Lovelock PK;Spurdle AB;Mok MT;Farrugia DJ;Lakhani SR;Healey S;Arnold S;Buchanan D;kConFab Investigators;Couch FJ;Henderson BR;Goldgar DE;Tavtigian SV;Chenevix-Trench G;Brown MA
通讯作者：
Brown MA
影响因子：
--
作者：
AIRD, I;BENTALL, HH;ROBERTS, JAF
通讯作者：
ROBERTS, JAF