Population Genomics and the Statistical Values of Race: An Interdisciplinary Perspective on the Biological Classification of Human Populations and Implications for Clinical Genetic Epidemiological Research.
Population Genomics and the Statistical Values of Race: An Interdisciplinary Perspective on the Biological Classification of Human Populations and Implications for Clinical Genetic Epidemiological Research.
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DOI：
10.3389/fgene.2016.00022
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发表时间：
2016
影响因子：
3.7
通讯作者：
Martin LJ
中科院分区：
文献类型：
--
作者：
Maglo KN;Mersha TB;Martin LJ
尽管使用了先进的统计和聚类方法来确定大陆血统，但种族概念适用于人类的生物学地位和生物医学意义仍然是有争议的问题。因此，研究人员必须了解种族概念在生物学和生物医学中的局限性和潜在用途。本文论述了人类群体基因组学中聚类分析的理论假设。采用跨学科的方法，它表明，属性的人口聚集的“摩擦”的影响，在大陆边界的地形障碍的假设是经验不连贯的。然后，它对比了人类群体基因组学中的“集群”和“渐变群”结构的科学地位，并展示了集群是如何通过工具产生的。它还表明，种族的统计值如何证明达尔文的论点，即种族在进化上是没有意义的。最后，本文解释了为什么，由于时空参数，进化力量和社会文化因素影响人口结构，大陆血统可能是务实的全球和公共卫生基因组学。总的来说，这项工作表明，从生物系统和进化分类学的角度来看，人类种族/大陆群体或集群没有自然意义或客观的生物现实。事实上，种族分类在研究和临床中的效用可以用时空参数、社会文化因素和影响疾病病因和治疗反应的进化力量来解释。
The biological status and biomedical significance of the concept of race as applied to humans continue to be contentious issues despite the use of advanced statistical and clustering methods to determine continental ancestry. It is thus imperative for researchers to understand the limitations as well as potential uses of the concept of race in biology and biomedicine. This paper deals with the theoretical assumptions behind cluster analysis in human population genomics. Adopting an interdisciplinary approach, it demonstrates that the hypothesis that attributes the clustering of human populations to “frictional” effects of landform barriers at continental boundaries is empirically incoherent. It then contrasts the scientific status of the “cluster” and “cline” constructs in human population genomics, and shows how cluster may be instrumentally produced. It also shows how statistical values of race vindicate Darwin's argument that race is evolutionarily meaningless. Finally, the paper explains why, due to spatiotemporal parameters, evolutionary forces, and socio-cultural factors influencing population structure, continental ancestry may be pragmatically relevant to global and public health genomics. Overall, this work demonstrates that, from a biological systematic and evolutionary taxonomical perspective, human races/continental groups or clusters have no natural meaning or objective biological reality. In fact, the utility of racial categorizations in research and in clinics can be explained by spatiotemporal parameters, socio-cultural factors, and evolutionary forces affecting disease causation and treatment response.