Mersha Tesfaye B, Abebe Tilahun
Division of Asthma Research, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
Department of Biology, University of Northern Iowa, Cedar Falls, IA, USA.
Hum Genomics. 2015 Jan 7;9(1):1. doi: 10.1186/s40246-014-0023-x.
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.
本综述探讨了生物医学研究中自我报告的种族、族裔和遗传血统的局限性。在基因组研究中,人们使用各种术语来对人类差异进行分类,包括种族、族裔和血统。虽然种族和族裔相关,但种族指的是一个人的外貌特征,如肤色和眼睛颜色。另一方面,族裔指的是文化遗产、语言、社会实践、传统和地缘政治因素方面的共性。使用祖先信息标记(AIMs)推断的遗传血统是基于遗传/基因组数据。基于表型的种族/族裔信息与使用AIMs计算得出的数据往往不一致。例如,自我报告为非裔美国人的个体,其非洲或欧洲血统水平可能有很大差异。对个体血统的基因分析表明,一些自我认定为非裔美国人的个体欧洲血统高达99%,而一些自我认定为欧洲裔美国人的个体有大量非洲血统的混合。同样,拉丁裔人群中的非洲血统比例在墨西哥裔美国人中为3%,在波多黎各裔美国人中为16%。这意味着,在非裔美国人或拉丁裔人群中,自我报告的血统在预测治疗结果时可能不如直接评估个体基因组信息准确。为了在健康差异的背景下更好地理解人类遗传变异,我们建议使用“血统”(或生物地理血统)来描述实际的遗传变异,使用“种族”来描述以种族类别为特征的社会中的健康差异,使用“族裔”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表征个体的生物血统。了解人类遗传变异的来源和健康差异的成因可能会带来改善所有人健康状况的干预措施。
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