Deconstructing the relationship between genetics and race (original) (raw)
Provine, W. B. Genetics and the biology of race crossing. Science182, 790–796 (1973). CASPubMed Google Scholar
Gould, S. J. The Mismeasure of Man (W. W. Norton Press, New York, 1981). Google Scholar
Lewontin, R. C. Human Diversity (Scientific American Books, Inc., New York, 1982). Google Scholar
Bamshad, M. J. & Olson, S. E. Does Race Exist? Sci. Am.289, 78–85 (2003). PubMed Google Scholar
Smedley, A. Race in North America: Origin and Evolution of a Worldview, 2nd edn (Westview Press, Boulder, 1999). Google Scholar
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). CASPubMed Google Scholar
Elliott, C. & Brodwin, P. Identity and genetic ancestry gracing. B. Med. J.325, 1469–1471 (2002). Google Scholar
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. CASPubMed Google Scholar
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. CAS Google Scholar
Fischer, A., Wiebe, V., Paabo, S. & Przeworski, M. Evidence for a complex demographic history of chimpanzees. Mol. Biol. Evol.5, 799–808 (2004). Google Scholar
Fay, J. C., Wyckoff, G. J. & Wu, C. I. Testing the neutral theory of molecular evolution with genomic data from Drosophila. Nature415, 1024–1026 (2002). CASPubMed Google Scholar
Nei, M. & Roychoudhury, 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). CASPubMedPubMed Central Google Scholar
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). CASPubMedPubMed Central Google Scholar
Bowcock, A. M. et al. Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. Proc. Natl Acad. Sci. USA88, 839–843 (1991). CASPubMed Google Scholar
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). CASPubMedPubMed Central Google Scholar
Shriver, M. et al. The genomic distribution of population substructure in four popoulations using 8,255 autosomal SNPs. Hum. Genomics (in the press).
Watkins, W. S. et al. Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms. Genome Res.13, 1607–1618 (2003). CASPubMedPubMed Central Google Scholar
Wilson, J. F. et al. Population genetic structure of variable drug response. Nature Genet.29, 265–269 (2001). CASPubMed Google Scholar
Turakulov, R. & Easteal, S. Number of SNPS loci needed to detect population structure. Hum. Hered.55, 37–45 (2003). PubMed Google Scholar
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). CAS Google Scholar
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. CASPubMedPubMed Central Google Scholar
Kittles, R. A. & Weiss, K. M. Race, ancestry, and genes: implications for defining disease risk. Annu. Rev. Genom.4, 33–67 (2003). CAS Google Scholar
Bamshad, M. J. et al. Human population genetic structure and inference of group membership. Am. J. Hum. Genet.72, 578–589 (2003). CASPubMedPubMed Central Google Scholar
Rosenberg, N. A. et al. Genetic structure of human populations. Science298, 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. CASPubMed Google Scholar
Bamshad, M. J. et al. Genetic evidence on the origins of Indian caste populations. Genome Res.11, 994–1004 (2001). CASPubMedPubMed Central Google Scholar
Tishkoff, S. A. & Verrelli, B. C. Patterns of human genetic diversity: implications for human evolutionary history and disease. Annu. Rev. Genom. Hum. Genet.4, 293–340 (2003). CAS Google Scholar
Malhotra, K. C. & Vasulu, T. S. in Human Population Genetics (ed. Majumder, P. P.) 207–232 (Plenum Press, New York, 1993). Google Scholar
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). CASPubMed Google Scholar
Merilä, J. & Crnokrak, P. Comparison of genetic differentiation at marker loci and quantitative traits. J. Evol. Biol.14, 892–903 (2001). Google Scholar
Tishkoff, S. A. & Williams, S. M. Genetic analysis of African populations: human evolution and complex disease. Nature Rev. Genet.3, 611–621 (2002). CASPubMed Google Scholar
Zimmerman, P. A. et al. Emergence of FY*_A_null in a _Plasmodium vivax_-endemic region of Papua New Guinea. Proc. Natl Acad. Sci. USA.96, 13973–13977 (1999). CASPubMed Google Scholar
Bamshad, M. J. et al. A strong signature of balancing selection in the 5′ _cis_-regulatory region of CCR5. Proc. Natl Acad. Sci. USA99, 10539–10544 (2002). CASPubMed Google Scholar
Wooding, S. et al. Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. Am. J. Hum. Genet.74, 637–646 (2004). CASPubMedPubMed Central Google Scholar
Haga, S. B. & Venter, J. C. FDA races in wrong direction. Science301, 466 (2003). CASPubMed Google Scholar
Lewontin, R. C. The apportionment of human diversity. Evol. Biol.6, 381–398 (1972). Google Scholar
Cavalli, L. L. & Piazza, A. Analysis of evolution: evolutionary rates, independence, and treeness. Theor. Pop. Biol.8, 127–165 (1975). Google Scholar
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). CASPubMed Google Scholar
Wright, S. The genetical structure of populations. Annu. Eugenics15, 323–354 (1951). CAS Google Scholar
Weir, B. S. & Hill, W. G. Estimating F-statistics. Annu. Rev. Genom. Hum. Genet.36, 721–750 (2002). CAS Google Scholar
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). CASPubMedPubMed Central Google Scholar
Long, J. C. & Kittles, R. A. Human genetic diversity and the nonexistence of biological races. Hum. Biol.75, 449–471 (2003). PubMed Google Scholar
Templeton, A. R. Human races: a genetic and evolutionary perspective. Am. Anthropol.100, 632–650 (1999). Google Scholar
Edwards, A. W. Human genetic diversity: Lewontin's fallacy. BioEssays25, 798–801 (2003). CASPubMed Google Scholar
King, M. & Motulsky, A. G. Mapping human history. Science298, 2342–2343 (2002). CASPubMed Google Scholar
Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet.17, 199–204 (2001). Google Scholar
Gabriel, S. B. et al. The structure of haplotype blocks in the human genome. Science296, 22225–2229 (2002). Google Scholar
Nielsen, R. Population genetic analysis of ascertained SNP data. Hum. Genom.1, 218–224 (2004). CAS Google Scholar
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). CASPubMed Google Scholar
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). CASPubMedPubMed Central Google Scholar
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. PubMed Google Scholar
Hoggart, C. J. et al. Control of confounding in genetic associations in stratified populations. Am. J. Hum. Genet.72, 1492–1504 (2003). CASPubMedPubMed Central Google Scholar
Pritchard, J. K. & Rosenberg, N. A. Use of unlinked genetic markers to detect population structure using multilocus genotype data. Genetics155, 945–959 (1999). Google Scholar
Hinds, D. A. et al. Matching strategies for genetic association studies in structured populations. Am. J. Hum. Genet.74, 317–325 (2004). CASPubMedPubMed Central Google Scholar
Parra, E. J. et al. Estimating African–American admixture proportions by use of population-specific alleles. Am. J. Hum. Genet.63, 1839–1851 (1998). CASPubMedPubMed Central Google Scholar
Frudakis, T. et al. A classifier for the SNP-based inference of ancestry. J. Forens. Sci.48, 1–12 (2003). Google Scholar
Shriver, M. D. & Kittles, R. A. Genetic ancestry and the search for personalized genetic histories. Nature Rev. Genet.5, 611–618 (2004). CASPubMed Google Scholar
Bamshad, M. & Wooding, S. P. Signatures of natural selection in the human genome. Nature Rev. Genet.4, 99–111 (2003). CASPubMed Google Scholar
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). CASPubMed Google Scholar
Hardy, J., Singleton, A. & Gwinn-Hardy, K. Ethnic differences and disease phenotypes. Science300, 739–740 (2003). CASPubMed Google Scholar
Wiencke, J. K. Impact of race/ethnicity on molecular pathways in human cancer. Nature Rev. Cancer4, 79–84 (2003). Google Scholar
Yancy, C. D. Does race matter in heart failure. Am. Heart J.146, 203–206 (2003). PubMed Google Scholar
Fernandez, J. R. et al. Association of African genetic admixture with resting metabolic rate and obesity among women. Obes. Res.11, 904–911 (2003). PubMed Google Scholar
Gower, B. A. et al. Using genetic admixture to explain racial differences in insulin-related phenotypes. Diabetes52, 1047–1051 (2003). CASPubMed Google Scholar
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 Meta Analysis Consortium. JAMA278, 1349–1356 (1997). CASPubMed Google Scholar
Martin, M. P. et al. Genetic acceleration of AIDS progression by a promoter variant of CCR5. Science282, 1907–1911 (1998). CASPubMed Google Scholar
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. CASPubMed Google Scholar
Ogura, Y. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature411, 603–606 (2001). CASPubMed Google Scholar
Hugot, J. P. et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature411, 599–603 (2001). CASPubMed Google Scholar
Inoue, N. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology123, 86–91 (2002). CASPubMed Google Scholar
Burgess, M. Beyond consent: ethical and social issues in genetic testing. Nature Rev. Genet.2, 147–151 (2001). CASPubMed Google Scholar
Kaplan, J. K. & Bennett, T. Use of race and ethnicity in biomedical publication. JAMA289, 2709–2716 (2003). PubMed Google Scholar
Sankar, P. & Cho, M. K. Toward a new vocabulary of human genetic variation. Science298, 1337–1338 (2003). Google Scholar
Sarich, V. & Miele, F. Race, the reality of human differences. (Westview, Boulder, Colorado, 2004). Google Scholar
Smedley, A. 'Race' and the construction of human identity. Am. Anthropol.100, 690–702 (1999). Google Scholar
Risch, N., Burchard, E., Ziv, E. & Tang, H. Categorization of humans in biomedical research: genes, race, and disease. Genome Biol.3, 1–12 (2003). Google Scholar
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). PubMed Google Scholar
Cooper, R. S., Kaufman, J. S. & Ward, R. Race and genomics. N. Engl. J. Med.348, 1166–1170 (2003). PubMed Google Scholar
Schwartz, R. S. Racial profiling in medical research. N. Engl. J. Med.344, 1392–1393 (2001). CASPubMed Google Scholar
Stephens, J. Racial meanings and scientific methods: changing policies for NIH-sponsored publications reporting human variation. J. Health Politics6, 1033–1087 (2003). Google Scholar