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复杂疾病的关联研究设计

Association study designs for complex diseases.

作者信息

Cardon L R, Bell J I

机构信息

University of Oxford, Nuffield Department of Clinical Medicine, Headington, Oxford OX3 9DU, UK.

出版信息

Nat Rev Genet. 2001 Feb;2(2):91-9. doi: 10.1038/35052543.

Abstract

Assessing the association between DNA variants and disease has been used widely to identify regions of the genome and candidate genes that contribute to disease. However, there are numerous examples of associations that cannot be replicated, which has led to skepticism about the utility of the approach for common conditions. With the discovery of massive numbers of genetic markers and the development of better tools for genotyping, association studies will inevitably proliferate. Now is the time to consider critically the design of such studies, to avoid the mistakes of the past and to maximize their potential to identify new components of disease.

摘要

评估DNA变异与疾病之间的关联已被广泛用于识别基因组中与疾病相关的区域和候选基因。然而,存在大量无法重复的关联实例,这引发了人们对该方法在常见疾病研究中实用性的质疑。随着大量遗传标记的发现以及基因分型工具的改进,关联研究必将大量涌现。现在是时候审慎考虑此类研究的设计了,以避免重蹈覆辙,并最大程度地发挥其识别疾病新组成部分的潜力。

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