On combining family and case-control studies.
On combining family and case-control studies.
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DOI：
10.1002/gepi.20338
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发表时间：
2008-11
影响因子：
2.1
通讯作者：
Landi MT
中科院分区：
文献类型：
--
作者：
Pfeiffer RM;Pee D;Landi MT
检测遗传与疾病相关性的研究可以是基于家庭的，通常使用多个受影响成员的家庭，或基于人群的，如基于人群的病例对照研究。如果两种研究类型的数据来自同一人群，则将它们联合收割机结合起来有助于提高检测遗传关联的能力。需要考虑数据的两个方面，即抽样方案和家庭成员之间的潜在剩余相关性。我们提出了两种方法，结合病例对照研究和家庭研究，收集多个案件的家庭的数据。在第一种方法中，我们认为一个家庭作为抽样单位，并指定联合可能性的家庭成员使用两个水平的混合效应模型来解释随机的家庭效应和家庭成员之间的剩余遗传相关性。通过以确定事件为条件来适应对族的确定。病例对照研究中的个体被视为一个规模的家庭，其无条件似然与家庭的条件似然相结合。该方法产生协变量效应的受试者特定最大似然估计值。在第二种方法中，我们将个人视为采样单位。采用两阶段抽样技术，估计边际协变量效应，并在方差计算中考虑家庭成员之间的相关性。在模拟中的模型进行比较。来自意大利东北部黑色素瘤和低风险黑色素瘤易感基因MC1R的病例对照和家族研究的数据被用来说明这些方法。
Studies to detect genetic association with disease can be family-based, often using families with multiple affected members, or population based, as in population based case-control studies. If data on both study types are available from the same population, it is useful to combine them to improve power to detect genetic associations. Two aspects of the data need to be accommodated, the sampling scheme and potential residual correlations among family members. We propose two approaches for combining data from a case-control study and a family study that collected families with multiple cases. In the first approach, we view a family as the sampling unit and specify the joint likelihood for the family members using a two-level mixed effects model to account for random familial effects and for residual genetic correlations among family members. The ascertainment of the families is accommodated by conditioning on the ascertainment event. The individuals in the case-control study are treated as families of size one, and their unconditional likelihood is combined with the conditional likelihood for the families. This approach yields subject specific maximum likelihood estimates of covariate effects. In the second approach, we view an individual as the sampling unit. The sampling scheme is accommodated using two-phase sampling techniques, marginal covariate effects are estimated, and correlations among family members are accounted for in the variance calculations. The models are compared in simulations. Data from a case-control and a family study from North-Eastern Italy on melanoma and a low-risk melanoma-susceptibility gene, MC1R, are used to illustrate the approaches.
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DOI：
10.1093/jnci/dji176
发表时间：
2005-07-06
期刊：
JOURNAL OF THE NATIONAL CANCER INSTITUTE
影响因子：
--
作者：
Landi, MT;Kanetsky, PA;Pfeiffer, RM
通讯作者：
Pfeiffer, RM
影响因子：
2
作者：
PFEFFERMANN, D
通讯作者：
PFEFFERMANN, D
影响因子：
6.1
作者：
WHITE, H
通讯作者：
WHITE, H
影响因子：
1.9
作者：
Neuhaus, J. M.;Scott, A. J.;Wild, C. J.
通讯作者：
Wild, C. J.
影响因子：
2.7
作者：
LIANG, KY;ZEGER, SL
通讯作者：
ZEGER, SL