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一个不大于其各部分之和的数字:遗传力的应用与滥用

A number no greater than the sum of its parts: the use and abuse of heritability.

作者信息

Vitzthum Virginia J

机构信息

National Science Foundation, Arlington, VA 22230, USA.

出版信息

Hum Biol. 2003 Aug;75(4):539-58. doi: 10.1353/hub.2003.0064.

Abstract

Though widely used in quantitative genetics, in the study of human variation perhaps no statistic is more easily misinterpreted than heritability. While the contribution of genetic heritage to complex biological and behavioral phenotypes cannot be lightly dismissed, nonetheless we remain profoundly ignorant of how that legacy plays out in any environmental context. To be sure, it is not reducible to a single number. Nor does the preference among anthropologists for analyzing biological rather than behavioral phenotypes improve what heritability can reasonably say about the sources of human variation. This paper discusses the meaning of heritability, the methods for its estimation, the fallacies underlying its misuse, and its utility for inquiries in evolutionary anthropology and epidemiology. Progress in anthropological genetics will be realized through greater sophistication in study designs, including the measurement of environmental (physical and sociocultural) variation and the judicious choice of phenotypes for study. Elucidating the ontogenetic processes underlying adaptive plasticity is particularly critical to understanding the evolution of human biological variation. Such advancements will also shed light on the feasibility of genotype-targeted biomedical treatments. Failure to appreciate the limits of such approaches can divert resources from demonstrably effective environmentally based health interventions that benefit entire populations. Simplistic notions of genetic determinism should be challenged for the sake of our theories and the well-being of larger communities. As exemplified by the work of Frank B. Livingstone, anthropological genetics is at its best when incorporating anthropology into the study of human phenotypic variation.

摘要

尽管遗传力在数量遗传学中被广泛应用,但在人类变异研究中,可能没有哪个统计量比遗传力更容易被误解了。虽然遗传因素对复杂的生物和行为表型的贡献不可忽视,但我们仍然对这种遗传因素在任何环境背景下如何发挥作用知之甚少。诚然,它不能简化为一个单一的数字。人类学家倾向于分析生物表型而非行为表型,这也无助于提高遗传力对人类变异来源的合理阐释能力。本文讨论了遗传力的含义、估计方法、其被误用背后的谬误,以及它在进化人类学和流行病学研究中的作用。人类学遗传学的进展将通过更精密的研究设计来实现,包括对环境(自然和社会文化)变异的测量以及对研究表型的明智选择。阐明适应性可塑性背后的个体发育过程对于理解人类生物变异的进化尤为关键。这些进展也将揭示针对基因型的生物医学治疗的可行性。如果不认识到这些方法的局限性,可能会将资源从那些能使全体人群受益的、已被证明有效的基于环境的健康干预措施中转移出来。为了我们的理论以及更广泛群体的福祉,应该对简单化的基因决定论观念提出挑战。正如弗兰克·B·利文斯通的工作所表明的那样,当将人类学纳入人类表型变异研究时,人类学遗传学才能发挥出最佳效果。

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