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报告具有复杂结果的遗传关联的问题

Helen M Colhoun¹, Paul M McKeigue, George Davey Smith

¹Department of Epidemiology and Public Health, University College London, WC1E 6BT, London, UK. h.colhoun@public-health.ucl.ac.uk

Lancet (London, England)

|March 19, 2003

概括

遗传关联研究的复制通常由于出版偏见,偶然性和小样本大小而差. 解决这些可纠正的问题对于复杂特征遗传研究的未来至关重要.

科学领域:

遗传学是一个遗传学.
复杂的特征遗传学复杂的特征遗传学
生物统计学生物统计学

背景情况:

简单的关联研究设计用于检测复杂特征中的遗传变异,由于复制失败而面临怀疑.
潜在的问题包括人口结构混,结果错误分类和等位基异质性.
其他解释表明,基因与疾病的关联中存在真正的异质性.

研究的目的:

确定遗传关联研究中复制缺乏的主要原因.
提出那些阻碍这些研究设计成功的可纠正因素.
倡导改变目前的做法,以保持遗传关联研究的实用性.

主要方法:

这项研究批判性地审查了遗传关联研究中常见的挑战.
它分析了导致无法复制发现的因素.
作者提出了改善遗传关联研究可靠性的解决方案.

主要成果:

公布偏见,未能考虑机会,和不足的样本大小被确定为最重要的因素.
这些问题与理论问题不同,是可以纠正的.
目前的做法有可能浪费科学资源,丢弃有价值的研究策略.

结论:

遗传关联研究中的复制失败在很大程度上是由于可纠正的方法和出版偏见.
在研究设计,统计分析和出版实践中实施变化是必不可少的.
纠正这些问题将确保复杂特征的遗传关联研究的持续价值和成功.

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