Deconstructing the relationship between genetics and race

Nature Reviews Genetics

Volumn 5, Issue 8, 2004, Pages 598-609

  Bamshad, Michael ^a   Wooding, Stephen ^a   Salisbury, Benjamin A ^b   Stephens, J Claiborne ^b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b Clinical Data Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANCESTOR; COMPLEX TRAIT; DEMOGRAPHY; EVOLUTION; GENEALOGY; GENETIC DIFFERENCE; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC SELECTION; GENETIC TRAIT; GENETIC VARIABILITY; GENETICS; HUMAN; MEDICAL RESEARCH; MULTIFACTORIAL INHERITANCE; POPULATION GENETICS; POPULATION STRUCTURE; PRIORITY JOURNAL; RACE; REVIEW;

CONTINENTAL POPULATION GROUPS; ETHNIC GROUPS; GENETIC MARKERS; GENETIC RESEARCH; GENETICS; GENETICS, POPULATION; GENOTYPE; HUMANS; PHYLOGENY; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 3442881708     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/nrg1401     Document Type: Review

References (84)

1. Provine, W. B. Genetics and the biology of race crossing. Science 182, 790-796 (1973).
2. Gould, S. J. The Mismeasure of Man (W. W. Norton Press, New York, 1981).
3. Lewontin, R. C. Human Diversity (Scientific American Books, Inc., New York, 1982).
4. Bamshad, M. J. & Olson, S. E. Does Race Exist? Sci. Am. 289, 78-85 (2003).
5. Smedley, A. Race in North America: Origin and Evolution of a Worldview, 2nd edn (Westview Press, Boulder, 1999).
6. Lohmueller, K. E., Pearce C. L., Lander, E. S. & Hirschhorn, J. N. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nature Genet. 33, 177-182 (2003).
7. Elliott, C. & Brodwin, P. Identity and genetic ancestry gracing. B. Med. J. 325, 1469-1471 (2002).
8. Foster, M. W. & Sharp, R. R. Race, ethnicity, and genomics: social classifications as proxies of biological heterogeneity. Genome Res. 12, 844-850 (2002). An introduction to some of the problems and challenges of trying to understand the relationship between the social definitions of populations and biologically defined groups.
9. Li, W. H. & Sadler, L. A Low nucleotide diversity in man. Genetics 129, 513-523 (1991).
10. Harpending, H. & Rogers, A. R. Genetic perspectives on human origins and differentiation. Annu. Rev. Genom. Hum. Genet. 1, 361-385 (2000). A good review of genetic evidence on the evolution of modern humans as it pertains to some of the fundamental questions about human demographic history and the impact of natural selection.
11. Fischer, A., Wiebe, V., Paabo, S. & Przeworski M. Evidence for a complex demographic history of chimpanzees. Mol. Biol. Evol. 5, 799-808 (2004).
12. Fay, J. C., Wyckoff, G. J. & Wu, C. I. Testing the neutral theory of molecular evolution with genomic data from Drosophila. Nature 415, 1024-1026 (2002).
13. Nei, M. & Roychouchury A. K. Genic variation within and between the three major races of man, Caucasoids, Negroids, and Mongoloids. Am. J. Hum. Genet. 26, 421-443 (1974).
14. Mountain, J. L. & Cavalli-Sforza, L. L. Multilocus genotypes, a tree of individuals, and human evolutionary history. Am. J. Hum. Genet. 61, 705-718 (1997).
15. Bowcock, A. M. et al. Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. Proc. Natl Acad. Sci. USA 88, 839-843 (1991).
16. Jorde, L. B. et al. The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data. Am. J. Hum. Genet. 66, 979-988 (2000).
17. Shriver, M. et al. The genomic distribution of population substructure in four popoulations using 8,255 autosomal SNPs. Hum. Genomics (in the press).
18. Watkins, W. S. et al. Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms. Genome Res. 13, 1607-1618 (2003).
19. Wilson, J. F. et al. Population genetic structure of variable drug response. Nature Genet. 29, 265-269 (2001).
20. Turakulov, R. & Easteal, S. Number of SNPS loci needed to detect population structure. Hum. Hered. 55, 37-45 (2003).
21. Ramachandran, S., Rosenberg, N. A., Zhivotovsky, L. A. & Feldman, M. W. Robustness of the inference of human population structure: a comparison of X-chromosomal and autosomal microsatellites. Hum. Genom. 1, 87-97 (2004).
22. Rosenberg, N., Li, L. M., Ward, R. & Pritchard, J. K. Informativeness of genetic markers for inference of ancestry. Am. J. Hum. Genet. 73, 1402-1422 (2003). A comprehensive analysis of worldwide human microsatellite data that examines the amount of information that multi-allelic markers provide about individual ancestry.
23. Kittles, R. A. & Weiss, K. M. Race, ancestry, and genes: implications for defining disease risk. Annu. Rev. Genom. 4, 33-67 (2003).
24. Bamshad, M. J. et al. Human population genetic structure and inference of group membership. Am. J. Hum. Genet. 72, 578-589 (2003).
25. Rosenberg, N. A. et al. Genetic structure of human populations. Science 298, 2381-2385 (2002). A comprehensive analysis of global patterns of human population structure. Its shows that although there is substantial geographical structuring among populations, the proportion of ancestry of many individuals from one or more of these populations is highly variable.
26. Bamshad, M. J. et al. Genetic evidence on the origins of Indian caste populations. Genome Res. 11, 994-1004 (2001).
27. Tishkoff, S. A. & Verralli, B. C. Patterns of human genetic diversity: implications for human evolutionary history and disease. Annu. Rev. Genom. Hum. Genet. 4, 293-340 (2003).
28. Malhotra, K. C. & Vasulu, T. S. in Human Population Genetics (ed. Majumder, P. P.) 207-232 (Plenum Press, New York, 1993).
29. Tajima, A. et al. Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages. J. Hum. Genet. 49, 187-193 (2004).
30. Merilä, J. & Crnokrak, P. Comparison of genetic differentiation at marker loci and quantitative traits. J. Evol. Biol. 14, 892-903 (2001).
31. Tishkoff, S. A. & Williams, S. M. Genetic analysis of African populations: human evolution and complex disease. Nature Rev. Genet. 3, 611-621 (2002).
32. null in a Plasmodium vivax-endemic region of Papua New Guinea. Proc. Natl Acad. Sci. USA. 96, 13973-13977 (1999).
33. Bamshad, M. J. et al. A strong signature of balancing selection in the 5′ cis-regulatory region of CCR5. Proc. Natl Acad. Sci. USA 99, 10539-10544 (2002).
34. Wooding, S. et al. Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. Am. J. Hum. Genet. 74, 637-646 (2004).
35. Haga, S. B. & Venter, J. C. FDA races in wrong direction Science 301, 466 (2003).
36. Lewontin, R. C. The apportionment of human diversity. Evol. Biol. 6, 381-398 (1972).
37. Cavalli, L. L. & Piazza, A. Analysis of evolution: evolutionary rates, independence, and treeness. Theor. Pop. Biol. 8, 127-165 (1975).
38. Jorde, L. B., Watkins, W. S. & Bamshad, M. J. Human population genomics: a bridge from evolutionary history to genetic medicine. Hum. Mol. Genet. 10, 2199-2207 2001).
39. Wright, S. The genetical structure of populations. Annu. Eugenics 15, 323-354 (1951).
40. Weir, B. S. & Hill, W. G. Estimating F-statistics. Annu. Rev. Genom. Hum. Genet. 36, 721-750 (2002).
41. Akey, J. M., Zhang, G., Zhang, K., Jin, L. & Shriver, M. D. Interrogating a high-density SNP map for signatures of natural selection. Genome Res. 12, 1805-1814 (2002).
42. Long, J. C. & Kittles, R. A. Human genetic diversity and the nonexistence of biological races. Hum. Biol. 75, 449-471 (2003).
43. Templeton, A. R. Human races: a genetic and evolutionary perspective. Am. Anthropol. 100, 632-650 (1999).
44. Steele, F. R. Genetic 'differences.' Genomics 79, 145 (2002).
45. AAA. American Anthropological Association Statement on Race. Am. Anthropol. 100, 712-713 (1999).
46. Office of Management and Budget. Revisions to the standards for the classification of federal data on race and ethnicity [online], 〈http://www.whitehouse.gov/omb/fedreg/ombdir15.html〉 (1997).
47. Edwards, A. W. Human genetic diversity: Lewontin's fallacy. BioEssays 25, 798-801 (2003).
48. King, M. & Motulsky, A. G. Mapping human history. Science 298, 2342-2343 (2002).
49. Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet. 17, 199-204 (2001).
50. Gabriel, S. B. et al. The structure of haplotype blocks in the human genome. Science 296, 22225-2229 (2002).
51. Nielsen, R. Population genetic analysis of ascertained SNP data. Hum. Genom. 1, 218-224 (2004).
52. Carlson, C. S. et al. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nature Genet. 33, 518-521 (2003).
53. Crawford, D. C. et al. Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am. J. Hum. Genet. 74, 610-622 (2004).
54. Shriver, M. D. et al. Skin pigmentation, biogeographical ancestry, and admixture mapping. Hum. Genet. 112, 387-399 (2003). A clear example of how estimates of individual ancestry proportions can be used to identify genotypes that influence phenotypes that differ between populations.
55. Hoggart, C. J. et al. Control of confounding in genetic associations in stratified populations. Am. J. Hum. Genet. 72, 1492-1504 (2003).
56. Pritchard, J. K. & Rosenberg, N. A. Use of unlinked genetic markers to detect population structure using multilocus genotype data. Genetics 155, 945-959 (1999).
57. Hinds, D. A. et al. Matching strategies for genetic association studies in structured populations. Am. J. Hum. Genet. 74, 317-325 (2004).
58. Parra, E. J. et al. Estimating African-American admixture proportions by use of population-specific alleles. Am. J. Hum. Genet. 63, 1839-1851 (1998).
59. Frudakis, T. et al. A classifier for the SNP-based inference of ancestry. J. Forens. Sci. 48, 1-12 (2003).
60. Shriver, M. D. & Kittles, R. A. Genetic ancestry and the search for personalized genetic histories. Nature Rev. Genet. 5, 611-618 (2004).
61. Bamshad, M. & Wooding, S. P. Signatures of natural selection in the human genome. Nature Rev. Genet. 4, 99-111 (2003).
62. Martinson, J. J., Chapman, N. H., Rees, D. C., Liu, Y. T. & Clegg, J. B. Global distribution of the CCR5 gene 32-basepair deletion. Nature Genet. 16, 100-103 (1997).
63. Hardy, J., Singleton, A. & Gwinn-Hardy, K. Ethnic differences and disease phenotypes. Science 300, 739-740 (2003).
64. Wiencke, J. K. Impact of race/ethnicity on molecular pathways in human cancer. Nature Rev. Cancer 4, 79-84 (2003).
65. Holden, C. Race and medicine. Science 302, 594-596 (2003).
66. Yancy, C. D. Does race matter in heart failure. Am. Heart J. 146, 203-206 (2003).
67. Fernandez, J. R. et al. Association of African genetic admixture with resting metabolic rate and obesity among women. Obes. Res. 11, 904-911 (2003).
68. Gower, B. A. et al. Using genetic admixture to explain racial differences in insulin-related phenotypes. Diabetes 52, 1047-1051 (2003).
69. Farrer, L. A. et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease MetaAnalysis Consortium. JAMA 278, 1349-1356 (1997).
70. Martin, M. P. et al. Genetic acceleration of AIDS progression by a promoter variant of CCR5. Science 282, 1907-1911 (1998).
71. Gonzalez, E. et al. Race-specific HIV-1 disease-modifying effects associated with CCR5 haplotypes. Proc. Natl Acad. Sci. USA. 96, 12004-12009 (1999). A noteworthy example of genetic variants associated with different outcomes of HIV-1 infection in African-Americans versus European-Americans.
72. Ogura, Y. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411, 603-606 (2001).
73. Hugot, J. P. et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411, 599-603 (2001).
74. Inoue, N. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 123, 86-91 (2002).
75. Burgess, M. Beyond consent: ethical and social issues in genetic testing. Nature Rev. Genet. 2, 147-151 (2001).
76. Kaplan, J. K. & Bennett, T. Use of race and ethnicity in biomedical publication. JAMA 289, 2709-2716 (2003).
77. Sankar, P. & Cho, M. K. Toward a new vocabulary of human genetic variation. Science 298, 1337-1338 (2003).
78. Sarich, V. & Miele F. Race, the reality of human differences. (Westview, Boulder, Colorado, 2004).
79. Smedley, A. 'Race' and the construction of human identity. Am. Anthropol. 100, 690-702 (1999).
80. Risch, N., Burchard, E., Ziv, E. & Tang, H. Categorization of humans in biomedical research: genes, race, and disease. Genome Biol. 3, 1-12 (2003).
81. Burchard, E. G. et al. The importance of race and ethnic background in biomedical research and clinical practice. N. Engl. J. Med. 348, 1170-1175 (2003).
82. Cooper, R. S., Kaufman, J. S. & Ward, R. Race and genomics. N. Engl. J. Med. 348, 1168-1170 (2003).
83. Schwartz, R. S. Racial profiling in medical research. N. Engl. J. Med. 344, 1392-1393 (2001).
84. Stephens, J. Racial meanings and scientific methods: changing policies for NIH-sponsored publications reporting human variation. J. Health Politics 6, 1033-1087 (2003).