Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities.
Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities.
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DOI：
10.1186/s40246-014-0023-x
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发表时间：
2015-01-07
期刊：
影响因子：
4.5
通讯作者：
Abebe T
中科院分区：
文献类型：
--
作者：
Mersha TB;Abebe T
这篇综述探讨了自我报告的种族、民族和遗传血统在生物医学研究中的局限性。不同的术语被用来对基因组研究中的人类差异进行分类，包括种族、民族和祖先。虽然种族和民族是相关的，但种族指的是一个人的外貌，如肤色和眼睛颜色。另一方面，民族性指的是文化遗产、语言、社会实践、传统和地缘政治因素的共同性。使用祖先信息标记(AIMS)推断的遗传祖先是基于遗传/基因组数据。基于表型的种族/族裔信息和使用AIMS计算的数据往往不一致。例如，自我报告的非洲裔美国人可能有截然不同的非洲或欧洲血统。对个人血统的遗传分析表明，一些自我认同的非裔美国人拥有高达99%的欧洲血统，而一些自我认同的欧洲美国人则大量混杂着非洲血统。同样，拉美裔人口中的非洲血统在墨西哥裔美国人中占3%，在波多黎各人中占16%。这意味着，在非裔美国人或拉美裔人群中，自我报告的血统在预测治疗结果方面可能不如直接评估个人基因组信息准确。为了更好地理解人类在健康差异背景下的遗传变异，我们建议使用“祖先”(或生物地理祖先)来描述实际的基因变异，使用“种族”来描述以种族类别为特征的社会中的健康差异，并使用“种族”来描述传统、生活方式、饮食和价值观。我们还建议使用祖先信息标记来精确描述个人的生物祖先。了解人类基因变异的来源和健康差异的原因可以导致采取干预措施，从而改善所有人的健康。
This review explores the limitations of self-reported race, ethnicity, and genetic ancestry in biomedical research. Various terminologies are used to classify human differences in genomic research including race, ethnicity, and ancestry. Although race and ethnicity are related, race refers to a person’s physical appearance, such as skin color and eye color. Ethnicity, on the other hand, refers to communality in cultural heritage, language, social practice, traditions, and geopolitical factors. Genetic ancestry inferred using ancestry informative markers (AIMs) is based on genetic/genomic data. Phenotype-based race/ethnicity information and data computed using AIMs often disagree. For example, self-reporting African Americans can have drastically different levels of African or European ancestry. Genetic analysis of individual ancestry shows that some self-identified African Americans have up to 99% of European ancestry, whereas some self-identified European Americans have substantial admixture from African ancestry. Similarly, African ancestry in the Latino population varies between 3% in Mexican Americans to 16% in Puerto Ricans. The implication of this is that, in African American or Latino populations, self-reported ancestry may not be as accurate as direct assessment of individual genomic information in predicting treatment outcomes. To better understand human genetic variation in the context of health disparities, we suggest using “ancestry” (or biogeographical ancestry) to describe actual genetic variation, “race” to describe health disparity in societies characterized by racial categories, and “ethnicity” to describe traditions, lifestyle, diet, and values. We also suggest using ancestry informative markers for precise characterization of individuals’ biological ancestry. Understanding the sources of human genetic variation and the causes of health disparities could lead to interventions that would improve the health of all individuals.
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影响因子：
3.7
作者：
Baye TM;Butsch Kovacic M;Biagini Myers JM;Martin LJ;Lindsey M;Patterson TL;He H;Ericksen MB;Gupta J;Tsoras AM;Lindsley A;Rothenberg ME;Wills-Karp M;Eissa NT;Borish L;Khurana Hershey GK
通讯作者：
Khurana Hershey GK
来自1,092个人基因组的遗传变异的综合图。
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作者：
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通讯作者：
Health ABC and CARDIA Studies Groups
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