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统计假阳性还是真正的疾病途径?

Statistical false positive or true disease pathway?

作者信息

Todd John A

机构信息

University of Cambridge, Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Addenbrooke's Hospital Cambridge, Cambridgeshire CB2 2XY, UK.

出版信息

Nat Genet. 2006 Jul;38(7):731-3. doi: 10.1038/ng0706-731.

DOI:10.1038/ng0706-731
PMID:16804532
Abstract

Three very recent reports provide convincing statistical evidence (P < 10(-8)), at a genome-wide level, of the association of common polymorphisms with three different common diseases: systemic lupus erythematosus (IRF5), prostate cancer and type 1 diabetes (IFIH1 region). This adds to the trickle--soon to be a flood--of disease association results that are highly unlikely to be false positives. There are other convincing examples in the last 12 months: age-related macular degeneration (CFH), type 1 diabetes (IL2RA, also known as CD25) and type 2 diabetes (TCF7L2). Given 20 years of a literature full of irreproducible results, what has changed?

摘要

最近的三项报告在全基因组水平上提供了令人信服的统计证据(P < 10^(-8)),表明常见多态性与三种不同的常见疾病有关联:系统性红斑狼疮(IRF5)、前列腺癌和1型糖尿病(IFIH1区域)。这增加了疾病关联结果的数量——很快将如洪流般涌现——这些结果极不可能是假阳性。在过去12个月里还有其他令人信服的例子:年龄相关性黄斑变性(CFH)、1型糖尿病(IL2RA,也称为CD25)和2型糖尿病(TCF7L2)。考虑到20年来文献中充斥着无法重复的结果,情况发生了什么变化呢?

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