School of History, Philosophy, and Religion, Oregon State University, USA.
Department of Psychology, University of Virginia, USA.
Stud Hist Philos Sci. 2021 Aug;88:60-69. doi: 10.1016/j.shpsa.2021.04.001. Epub 2021 May 28.
In what sense are associations between particular markers and complex behaviors made by genome-wide association studies (GWAS) and related techniques discoveries of, or entries into the study of, the causes of those behaviors? In this paper, we argue that when applied to individuals, the kinds of probabilistic 'causes' of complex traits that GWAS-style studies can point towards do not provide the kind of causal information that is useful for generating explanations; they do not, in other words, point towards useful explanations of why particular individuals have the traits that they do. We develop an analogy centered around Galton's "Quincunx" machine; while each pin might be associated with outcomes of a certain sort, in any particular trial, that pin might be entirely bypassed even if the ball eventually comes to rest in the box most strongly associated with that pin. Indeed, in any particular trial, the actual outcome of a ball hitting a pin might be the opposite of what is usually expected. While we might find particular pins associated with outcomes in the aggregate, these associations will not provide causally relevant information for understanding individual outcomes. In a similar way, the complexities of development likely render impossible any moves from population-level statistical associations between genetic markers and complex behaviors to an understanding of the causal processes by which individuals come to have the traits that they in fact have.
在何种意义上，全基因组关联研究（GWAS）和相关技术所发现的特定标志物与复杂行为之间的关联，是对这些行为的原因的研究？在本文中，我们认为，当应用于个体时，GWAS 式研究能够指向的那种复杂特征的概率“原因”，并不能提供对生成解释有用的那种因果信息；换句话说，它们并不能指向对于为什么特定个体具有他们所具有的特征的有用解释。我们发展了一个以高尔顿的“五分仪”机器为中心的类比；虽然每个针可能与某种特定的结果相关联，但在任何特定的试验中，即使球最终停留在与该针关联最强的盒子里，该针也可能完全被绕过。事实上，在任何特定的试验中，球撞击针的实际结果可能与通常预期的结果相反。虽然我们可能会发现特定的针与总体结果相关联，但这些关联并不能提供有关理解个体结果的因果相关信息。以类似的方式，发展的复杂性可能使得从遗传标记与复杂行为之间的群体水平统计关联到对个体获得他们实际上所具有的特征的因果过程的理解，变得不可能。
