Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities

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• 作者：Tesfaye B Mersha ; Tilahun Abebe
• 关键词：Genome ; Race ; Ethnicity ; Ancestry ; Ancestry informative markers ; Ancestry haplotype ; Admixture ; Health disparity
• 刊名：Human Genomics
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：9
• 期：1
• 全文大小：1,252 KB
• 参考文献：1. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409(6822):860-21. CrossRef
  2. Hinds DA, Stuve LL, Nilsen GB, Halperin E, Eskin E, Ballinger DG, et al. Whole-genome patterns of common DNA variation in three human populations. Science. 2005;307(5712):1072-. CrossRef
  3. Buchanan CC, Torstenson ES, Bush WS, Ritchie MD. A comparison of cataloged variation between International HapMap consortium and 1000 Genomes Project data. J Am Med Inform Assoc. 2012;19(2):289-4. CrossRef
  4. Baye TM. Inter-chromosomal variation in the pattern of human population genetic structure. Hum Genomics. 2011;5(4):220-0. CrossRef
  5. Genomes Project C, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56-5. CrossRef
  6. Keen-Kim D, Mathews CA, Reus VI, Lowe TL, Herrera LD, Budman CL, et al. Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses. Hum Mol Genet. 2006;15(22):3324-. CrossRef
  7. Jones BL, Raga TO, Liebert A, Zmarz P, Bekele E, Danielsen ET, et al. Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep. Am J Hum Genet. 2013;93(3):538-4. CrossRef
  8. Sturm RA. Molecular genetics of human pigmentation diversity. Hum Mol Genet. 2009;18(R1):R9–R17. CrossRef
  9. Tishkoff SA, Varkonyi R, Cahinhinan N, Abbes S, Argyropoulos G, Destro-Bisol G, et al. Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science. 2001;293(5529):455-2. CrossRef
  10. Stringer CB, Andrews P. Genetic and fossil evidence for the origin of modern humans. Science. 1988;239(4845):1263-. CrossRef
  11. Sankar P, Cho MK. Genetics. Toward a new vocabulary of human genetic variation. Science. 2002;298(5597):1337-. CrossRef
  12. Cornell S, van der Linden A. Ethnicity and Race: Making Identities in a Changing World. 2nd ed. London: Sage; 2007.
  13. Baye TM, Wilke RA. Mapping genes that predict treatment outcome in admixed populations. Pharmacogenomics J. 2010;10(6):465-7. CrossRef
  14. Davis F. Who is Black? One Nation’s Definition. University Park: Pennsylvania State University Press; 1991.
  15. Parra E. Admixture in North America. In: Suarez-Kurtz G, editor. Pharmacogenomics in Admixed Populations. Georgetown, TX: Landes Bioscience; 2006.
  16. Hunninghake GM, Weiss ST, Celedon JC. Asthma in Hispanics. Am J Respir Crit Care Med. 2006;173(2):143-3. CrossRef
  17. Lara M, Akinbami L, Flores G, Morgenstern H. Heterogeneity of childhood asthma among Hispanic children: Puerto Rican children bear a disproportionate burden. Pediatrics. 2006;117(1):43-3. CrossRef
  18. Chen W, Brehm JM, Boutaoui N, Soto-Quiros M, Avila L, Celli BR, et al. Native American Ancestry, lung function, and COPD in Costa Ricans. Chest. 2014;145(4):704-0. CrossRef
  19. Brehm JM, Acosta-Perez E, Klei L, Roeder K, Barmada MM, Boutaoui N, et al. African ancestry and lung function in Puerto Rican children. J Allergy Clin
• 刊物主题：Human Genetics; Proteomics; Bioinformatics;
• 出版者：BioMed Central
• ISSN：1479-7364

文摘

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.