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关于在关联研究中合并基于家系和基于人群的病例对照数据。

On combining family-based and population-based case-control data in association studies.

作者信息

Zheng Yingye, Heagerty Patrick J, Hsu Li, Newcomb Polly A

机构信息

Biostatistics and Biomathematics Program, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.

出版信息

Biometrics. 2010 Dec;66(4):1024-33. doi: 10.1111/j.1541-0420.2010.01393.x.

DOI:10.1111/j.1541-0420.2010.01393.x
PMID:20163402
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3038246/
Abstract

Combining data collected from different sources can potentially enhance statistical efficiency in estimating effects of environmental or genetic factors or gene-environment interactions. However, combining data across studies becomes complicated when data are collected under different study designs, such as family-based and unrelated individual-based case-control design. In this article, we describe likelihood-based approaches that permit the joint estimation of covariate effects on disease risk under study designs that include cases, relatives of cases, and unrelated individuals. Our methods accommodate familial residual correlation and a variety of ascertainment schemes. Extensive simulation experiments demonstrate that the proposed methods for estimation and inference perform well in realistic settings. Efficiencies of different designs are contrasted in the simulation. We applied the methods to data from the Colorectal Cancer Family Registry.

摘要

整合从不同来源收集的数据可能会提高估计环境或遗传因素的影响或基因 - 环境相互作用时的统计效率。然而,当数据是在不同的研究设计下收集时,比如基于家系和基于无关个体的病例对照设计,跨研究整合数据就变得复杂起来。在本文中,我们描述了基于似然性的方法,这些方法允许在包含病例、病例亲属和无关个体的研究设计下联合估计协变量对疾病风险的影响。我们的方法考虑了家族性残余相关性和多种确定方案。广泛的模拟实验表明,所提出的估计和推断方法在实际环境中表现良好。模拟中对比了不同设计的效率。我们将这些方法应用于来自结直肠癌家族登记处的数据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a149/3038246/891611b0b9ce/nihms187287f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a149/3038246/891611b0b9ce/nihms187287f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a149/3038246/891611b0b9ce/nihms187287f1.jpg

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本文引用的文献

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On combining family and case-control studies.关于家庭研究与病例对照研究的结合
Genet Epidemiol. 2008 Nov;32(7):638-46. doi: 10.1002/gepi.20338.
2
Simple association analysis combining data from trios/sibships and unrelated controls.结合三联体/同胞对数据和无关对照数据的简单关联分析。
Genet Epidemiol. 2008 Sep;32(6):520-7. doi: 10.1002/gepi.20325.
3
Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer.结肠癌家族登记处:一个用于结肠癌遗传流行病学研究的国际资源。
Cancer Epidemiol Biomarkers Prev. 2007 Nov;16(11):2331-43. doi: 10.1158/1055-9965.EPI-07-0648. Epub 2007 Nov 2.
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Case-control association testing with related individuals: a more powerful quasi-likelihood score test.对相关个体进行病例对照关联检验:一种更强大的拟似然评分检验。
Am J Hum Genet. 2007 Aug;81(2):321-37. doi: 10.1086/519497. Epub 2007 Jul 10.
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Biometrics. 2006 Jun;62(2):488-94. doi: 10.1111/j.1541-0420.2005.00450.x.
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MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.地中海人群散发性和家族性黑色素瘤中的MC1R、ASIP与DNA修复
J Natl Cancer Inst. 2005 Jul 6;97(13):998-1007. doi: 10.1093/jnci/dji176.
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