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Race, ancestry, and genes: implications for defining disease risk.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2003-10-07 , DOI: 10.1146/annurev.genom.4.070802.110356
Rick A Kittles 1 , Kenneth M Weiss
Affiliation  

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.

中文翻译:

种族,血统和基因:定义疾病风险的含义。

遗传学家对寻找与疾病相关的基因感兴趣。由于广泛的健康差异,种族是经常被认为与这种情况相关的变量。这个想法是先入为主的“种族”成员具有共同的血统,其中可能包括遗传风险因素。人类变异是由人口历史的长期过程决定的,反映这一历史的人口样本带有有关共享遗传变异或“祖先”的统计信息。但是种族是一个难以捉摸的概念,即使严格地定义,术语也很难。不幸的是,这些问题既不是新问题也不是与最近的遗传知识有关。种族也是美国人生活中最具政治色彩的主题之一,因为种族的相关社会文化成分众所周知导致了误导性和政治滥用的分类待遇。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。但是在这种情况下,种族反映了深深混杂的文化和生物学因素,因此必须在种族作为统计风险因素和因果遗传变量之间进行仔细区分。
更新日期:2019-11-01
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