Is there still a need for candidate gene approaches in the era of genome-wide association studies?
Is there still a need for candidate gene approaches in the era of genome-wide association studies?
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DOI：
10.1016/j.ygeno.2008.12.011
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发表时间：
2009-05-01
期刊：
影响因子：
4.4
通讯作者：
Canzian, Federico
中科院分区：
文献类型：
--
作者：
Wilkening, Stefan;Chen, Bowang;Canzian, Federico
大多数与人类复杂疾病相关的遗传变异被认为对风险的影响很小。通过传统的候选基因/途径方法，可以确定与疾病风险的几种关联。然而，现在全基因组关联研究是可行的，问题是是否仍然需要这些方法。通过使用HapMap数据，我们评估了商业上可获得的微阵列通过连锁不平衡在多大程度上覆盖了不同人群中所有目前已知的基因和生物过程。此外，我们估计了检测与任何特定SNP的所有关联的能力。我们的研究表明，目前商业基因分型平台对单个基因和途径的覆盖率对于绝大多数RefSeq基因区域是令人满意的。然而，根据基因或人群，可能仍然需要候选基因方法，特别是当观察具有低等位基因频率的多态性时。(C)2009爱思唯尔公司All rights reserved.
Most genetic variants associated with complex diseases in humans are believed to have a small impact of risk. With traditional candidate gene/pathway approaches several associations with disease risk could be identified. However, now that genome-wide association Studies are feasible, the question arises if there is still a need for these approaches. By using HapMap data, we evaluated to which extent commercially available microarrays cover, through linkage disequilibrium, all currently known genes and biological processes in different populations. Furthermore, we estimated the power to detect all association with any specific SNP. Our study shows that coverage of individual genes and pathways by current commercial genotyping platforms is satisfactory for the vast majority of RefSeq gene regions. However, depending oil the gene or the population, there may still be a need for candidate gene approaches, especially when looking at polymorphisms with low allele frequencies. (C) 2009 Elsevier Inc. All rights reserved.