Genome-wide association studies: potential next steps on a genetic journey
Genome-wide association studies: potential next steps on a genetic journey
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DOI：
10.1093/hmg/ddn289
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发表时间：
2008-10-15
影响因子：
3.5
通讯作者：
Hirschhorn, Joel N.
中科院分区：
文献类型：
--
作者：
McCarthy, Mark I.;Hirschhorn, Joel N.
全基因组关联研究已成功确定了许多常见变异影响疾病风险或数量性状的基因座。尽管取得了这些成功，但这些研究确定的变异通常只能解释疾病风险遗传成分的一小部分，并且无法确定相关基因座上的致病变异。此外，相关基因座影响疾病或数量表型的作用机制往往不清楚，因为我们不知道相关变异通过哪些基因发挥作用，或者这些基因功能未知，或者与已知的疾病生物学没有明确联系。因此，最初的一组全基因组关联研究是未来遗传和功能研究的起点。我们概述了可能的后续步骤，这些步骤可能有助于加速从遗传研究到能够指导预测、预防或治疗措施开发的生物学知识的进展。
Genome-wide association studies have successfully identified numerous loci at which common variants influence disease risk or quantitative traits. Despite these successes, the variants identified by these studies have generally explained only a small fraction of the heritable component of disease risk, and have not pinpointed with certainty the causal variant(s) at the associated loci. Furthermore, the mechanisms of action by which associated loci influence disease or quantitative phenotypes are often unclear, because we do not know through which gene(s) the associated variants exert their effects or because these gene(s) are of unknown function or have no clear connection to known disease biology. Thus, the initial set of genome-wide association studies serve as a starting point for future genetic and functional studies. We outline possible next steps that may help accelerate progress from genetic studies to the biological knowledge that can guide the development of predictive, preventive, or therapeutic measures.