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种族、血统与基因:对定义疾病风险的影响

Race, ancestry, and genes: implications for defining disease risk.

作者信息

Kittles Rick A, Weiss Kenneth M

机构信息

National Human Genome Center, Howard University, Washington, D.C. 20060, USA.

出版信息

Annu Rev Genomics Hum Genet. 2003;4:33-67. doi: 10.1146/annurev.genom.4.070802.110356.

Abstract

Geneticists are interested in finding genes associated with disease. Because of widespread health disparities, race is a variable that is often said to be relevant in this context. The idea is that members of a preconceived "race" share common ancestry that may include genetic risk factors. Human variation has been shaped by the long-term processes of population history, and population samples that reflect that history carry statistical information about shared genetic variation or "ancestry." But race is an elusive concept and a term difficult even to define rigorously. Unfortunately, these problems are neither new nor related to recent genetic knowledge. Race is also one of the most politically charged subjects in American life because its associated sociocultural component has notoriously led to categorical treatment that has been misleading and politically misused. There are ways in which the concept of race (whether or not the term is used) can be a legitimate tool in the search for disease-associated genes. But in that context race reflects deeply confounded cultural as well as biological factors, and a careful distinction must be made between race as a statistical risk factor and causal genetic variables.

摘要

遗传学家对寻找与疾病相关的基因很感兴趣。由于广泛存在的健康差异,种族是一个常被认为在此背景下具有相关性的变量。其观点是,一个先入为主的“种族”的成员拥有共同的祖先,其中可能包括遗传风险因素。人类变异是由长期的人口历史进程塑造的,反映这段历史的人口样本承载着有关共享遗传变异或“血统”的统计信息。但种族是一个难以捉摸的概念,甚至是一个难以严格定义的术语。不幸的是,这些问题既不新鲜,也与最近的遗传学知识无关。种族也是美国生活中政治色彩最浓的话题之一,因为其相关的社会文化成分 notoriously 导致了具有误导性且在政治上被滥用的分类对待。在某些方面,种族概念(无论是否使用该术语)可以成为寻找疾病相关基因的合法工具。但在这种情况下,种族反映了深度混杂的文化以及生物学因素,必须仔细区分作为统计风险因素的种族和因果遗传变量。 (注:原文中“notoriously”此处暂未准确翻译出合适中文词汇,保留英文供你参考)

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