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家族性或非家族性:基因关联研究中不断演变的争论

Families or Unrelated: The Evolving Debate in Genetic Association Studies.

作者信息

Fardo David W, Charnigo Richard, Epstein Michael P

机构信息

Department of Biostatistics, University of Kentucky, 725 Rose St, Lexington KY 40536.

Department of Human Genetics, Emory University, 615 Michael St, Atlanta GA 30322.

出版信息

J Biom Biostat. 2012 Jun 1;3(4):e108.

Abstract

To help uncover the genetic determinants of complex disease, a scientist often designs an association study using either unrelated subjects or family members within pedigrees. But which of these two subject recruitment paradigms is preferable? This editorial addresses the debate over the relative merits of family- and population-based genetic association studies. We begin by briefly recounting the evolution of genetic epidemiology and the rich crossroads of statistics and genetics. We then detail the arguments for the two aforementioned paradigms in recent and current applications. Finally, we speculate on how the debate may progress with the emergence of next-generation sequencing technologies.

摘要

为了帮助揭示复杂疾病的遗传决定因素,科学家通常会设计一项关联研究,使用无血缘关系的受试者或家系中的家庭成员。但这两种受试者招募模式中哪种更可取呢?这篇社论探讨了关于基于家系和基于人群的基因关联研究相对优点的争论。我们首先简要回顾一下遗传流行病学的发展历程以及统计学与遗传学丰富的交叉领域。然后详细阐述在近期和当前应用中支持上述两种模式的论据。最后,我们推测随着下一代测序技术的出现,这场争论可能会如何发展。

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