Tuberculosis as a complex trait: impact of genetic epidemiological study design.
Tuberculosis as a complex trait: impact of genetic epidemiological study design.
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结核病作为一种复杂的特征：遗传流行病学研究设计的影响。
DOI：
10.1007/s00335-010-9301-7
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发表时间：
2011
期刊：
影响因子：
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通讯作者：
Baker,AllisonR
中科院分区：
文献类型：
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作者：
Stein,CatherineM;Baker,AllisonR
多项研究表明，人类遗传风险因素在罹患结核病 (TB) 的易感性中发挥着重要作用。然而，这些研究的结果并不一致，这些不一致的潜在原因之一是研究设计方面的差异。具体来说，表型定义和群体遗传因素存在巨大差异。由于结核病是一种复杂的性状，因此设计研究以适当评估结核病发展的人类遗传风险因素（而不是获得潜在的潜在风险因素）存在许多挑战。结核感染。在这篇综述中，我们总结了这些重要的研究设计差异，并附有结核病遗传学文献的插图。我们引用了 NRAMP1（SLC11A1）基因研究的具体例子，并提出了这些研究不同分层的 Fisher 组合 p 值，以进一步说明研究设计差异的影响。最后，我们为未来结核病遗传流行病学研究的设计提供建议。
Several studies have suggested a role for human genetic risk factors in the susceptibility to developing tuberculosis (TB). However, results of these studies have been inconsistent, and one potential reason for these inconsistencies is variation in aspects of study design. Specifically, phenotype definitions and population genetic factors have varied dramatically. Since TB is a complex trait, there are many challenges in designing studies to assess appropriately human genetic risk factors for the development of TB as opposed to the acquisition of latentM. tuberculosisinfection. In this review we summarize these important study design differences, with illustrations from the TB genetics literature. We cite specific examples of studies of theNRAMP1(SLC11A1) gene and present Fisher’s combinedpvalues for different stratifications of these studies to further illustrate the impact of study design differences. Finally, we provide suggestions for the design of future genetic epidemiological studies of TB.