关于性别差异的说法:对遗传关联的经验评估
Nikolaos A Patsopoulos1, Athina Tatsioni, John P A Ioannidis
1Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Greece.
JAMA
|August 23, 2007
概括
大多数关于遗传关联中性别差异的说法都缺乏有效性. 很少有遗传性差异的说法显示出强烈的内部和外部验证,突出了这一研究领域的挑战.
科学领域:
- 遗传学 是一个遗传学.
- 人类健康 人类健康 人类健康
- 生物统计学 生物统计学
背景情况:
- 调查与常见疾病和特征的遗传关联中的性别差异是遗传研究中的一个重大挑战.
- 许多研究试图识别男性和女性之间的独特遗传风险概况,为越来越多的文献做出了贡献.
研究的目的:
- 批判性地评估关于遗传效应的性别差异的突出主张的内部和外部有效性.
- 评估在人类疾病和表型中报告的基因与性别相互作用的可靠性和可重复性.
主要方法:
- 在2007年7月6日之前对PubMed进行了系统的文献搜索,寻找明确声称其标题中存在性别相关差异的遗传关联研究.
- 评估了215篇获取文章的资格,包括标题,摘要和全文审查,重点关注那些声称对任何人类疾病有性别差异性遗传影响的研究.
- 提取了关于先验规范,样本使用,文档质量 (适当,不足,虚假) 的数据,并在原始数据可用时对基因与性别相互作用进行了重新分析.
主要成果:
- 从77篇符合条件的文章中评估了432个性别差异声明;66.2%是预先指定的,48.6%使用了整个样本.
- 仅在12.7%的索赔中发现了基因与性别相互作用的适当文档;44.1%的重新分析索赔是名义上显著的 (P < .05),其中许多具有适度的P值.
- 在具有最佳内部有效性的60个说法中,只有一个在至少两项其他研究中得到了一致的复制,这表明外部有效性很差.
结论:
- 大多数关于遗传关联中性别相关差异的突出的说法是不充分记录的或是虚假的.
- 证明强大的内部和外部有效性的说法并不常见,这表明在性别差异研究中需要更严格的方法.
- 这项研究强调了在建立可靠的性别特异性遗传效应方面面临的挑战,原因是方法上的局限性和缺乏一致的复制.
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