Categorization of humans in biomedical research: genes, race and disease

A debate has arisen regarding the validity of racial/ethnic categories for biomedical and genetic research. Some claim 'no biological basis for race' while others advocate a 'race-neutral' approach, using genetic clustering rather than self-identified ethnicity for human genetic categorization. We provide an epidemiologic perspective on the issue of human categorization in biomedical and genetic research that strongly supports the continued use of self-identified race and ethnicity.

[1]  D. Hewett‐Emmett,et al.  Origins of u.s. Hispanics: Implications for Diabetes , 1991, Diabetes Care.

[2]  A M Nomura,et al.  Migration patterns and breast cancer risk in Asian-American women. , 1993, Journal of the National Cancer Institute.

[3]  B. Weinshenker,et al.  Epidemiology of multiple sclerosis. , 1996, Neurologic clinics.

[4]  J. Long,et al.  Individual estimates of European genetic admixture associated with lower body-mass index, plasma glucose, and prevalence of type 2 diabetes in Pima Indians. , 2000, American journal of human genetics.

[5]  Jennifer Y. Liu,et al.  Ethnic disparities in diabetic complications in an insured population. , 2002, JAMA.

[6]  Genes, drugs and race , 2001, Nature Genetics.

[7]  D. F. Roberts,et al.  The History and Geography of Human Genes , 1996 .

[8]  Jennifer J. Pointon,et al.  Geography of HFE C282Y and H63D mutations. , 2000, Genetic testing.

[9]  M. Domanski,et al.  Lesser response to angiotensin-converting-enzyme inhibitor therapy in black as compared with white patients with left ventricular dysfunction. , 2001, The New England journal of medicine.

[10]  W. Knowler,et al.  Genetic admixture and gallbladder disease in Mexican Americans. , 1998, American journal of physical anthropology.

[11]  A Piazza,et al.  Reconstruction of human evolution: bringing together genetic, archaeological, and linguistic data. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[12]  R. Cann The history and geography of human genes , 1995, The Journal of Asian Studies.

[13]  A. Wood Racial differences in the response to drugs--pointers to genetic differences. , 2001, The New England journal of medicine.

[14]  R. Cooper,et al.  Commentary: considerations for use of racial/ethnic classification in etiologic research. , 2001, American journal of epidemiology.

[15]  R. Lewontin The Apportionment of Human Diversity , 1972 .

[16]  J. Stephens,et al.  Polymorphic admixture typing in human ethnic populations. , 1994, American journal of human genetics.

[17]  R. Cassidy,et al.  Overview of Race and Hispanic Origin: Census 2000 Brief. , 2001 .

[18]  J. Kere,et al.  Microsatellite diversity and the demographic history of modern humans. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[19]  Luigi Luca Cavalli-sfroza The History and Geography of Human Genes , 1994 .

[20]  J. Stephens,et al.  Haplotype Variation and Linkage Disequilibrium in 313 Human Genes , 2001, Science.

[21]  G Barbujani,et al.  An apportionment of human DNA diversity. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[22]  J. Todd,et al.  Ethnic Differences in Human Leukocyte Antigen Markers of Susceptibility to IDDM , 1994, Diabetes Care.

[23]  W. Speed,et al.  Short tandem repeat polymorphism evolution in humans , 1998, European Journal of Human Genetics.

[24]  R. Williams,et al.  Gm3;5,13,14 and type 2 diabetes mellitus: an association in American Indians with genetic admixture. , 1988, American journal of human genetics.

[25]  J. Kelsey,et al.  Use of race and ethnicity in epidemiologic research: concepts, methodological issues, and suggestions for research. , 2000, Epidemiologic reviews.

[26]  B. Latter Genetic Differences Within and Between Populations of the Major Human Subgroups , 1980, The American Naturalist.

[27]  N. Shen,et al.  Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis , 1999, Nature Genetics.

[28]  L. Cavalli-Sforza,et al.  High resolution of human evolutionary trees with polymorphic microsatellites , 1994, Nature.

[29]  David B. Goldstein,et al.  Population genetic structure of variable drug response , 2001, Nature Genetics.

[30]  S. Tishkoff,et al.  Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins , 1996, Science.

[31]  S. O’Brien,et al.  Markers for mapping by admixture linkage disequilibrium in African American and Hispanic populations. , 2001, American journal of human genetics.

[32]  L. Cavalli-Sforza,et al.  Multilocus genotypes, a tree of individuals, and human evolutionary history. , 1997, American journal of human genetics.

[33]  D. Allison,et al.  Estimating African American admixture proportions by use of population-specific alleles. , 1998, American journal of human genetics.

[34]  K K Kidd,et al.  Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[35]  M. King,et al.  Genomic views of human history. , 1999, Science.

[36]  M. Alter,et al.  Distribution of multiple sclerosis. , 1973, Lancet.

[37]  H. McLeod Pharmacogenetics: more than skin deep , 2001, Nature Genetics.

[38]  A. Pérez-Lezaun,et al.  Microsatellite variation and the differentiation of modern humans , 1996, Human Genetics.

[39]  R. Schwartz Racial profiling in medical research. , 2001, The New England journal of medicine.

[40]  M. Cargill Characterization of single-nucleotide polymorphisms in coding regions of human genes , 1999, Nature Genetics.