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Deconstructing the relationship between genetics and race

Key Points

  • Highlighting genetic differences among people could unfortunately reinforce stereotypical features of populations, but exploring the genetic influence on common health-related traits and disparities could also be beneficial to human health.

  • Accurate inference of an individual's ancestry using genetic data depends on several factors, including the number of genotypes used, the degree of differentiation among groups and how each group is sampled.

  • Inferences of human population structure based on genetic data often differ from inferences based on phenotypic characteristics.

  • Although there might be little variation among groups, it is highly structured and therefore useful for distinguishing groups and allocating individuals into groups.

  • Insofar as geographical ancestry corresponds to some notions of race, patterns of genetic variation will also co-vary with these notions.

  • The inaccurate measure of ancestry afforded by proxies of genetic relationships such as race or ethnicity can sometimes be useful, but in other circumstances, might lower the chances of findings disease-susceptibility loci and lessen the predictive value of clinical inferences.


The success of many strategies for finding genetic variants that underlie complex traits depends on how genetic variation is distributed among human populations. This realization has intensified the investigation of genetic differences among groups, which are often defined by commonly used racial labels. Some scientists argue that race is an adequate proxy of ancestry, whereas others claim that race belies how genetic variation is apportioned. Resolving this controversy depends on understanding the complicated relationship between race, ancestry and the demographic history of humans. Recent discoveries are helping us to deconstruct this relationship, and provide better guidance to scientists and policy makers.

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Figure 1: Inference of individual ancestry proportions from genetic data.
Figure 2: Comparison of genetic differences among individuals in different 'racial' populations.
Figure 3: Marker performance for inference of individual ancestry versus estimation of FST or RST.
Figure 4: Comparison of polymorphism frequencies between African– and European–Americans.

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We thank S. Guthery and M. Pungliya for technical assistance, T. Frudakis for access to data from DNAPrint Genomics, S. Olson and L. Jorde for discussion, and four anonymous reviewers for comments and criticisms. M.B. and S.W. are supported by the US National Institutes of Health and the National Science Foundation.

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Correspondence to Michael Bamshad.

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Benjamin A. Salisbury and J. Claiborne Stephens are both employees and shareholders of Genaissance Pharmaceuticals, Inc.

Supplementary information


supplementary information S1 (data)100 Alu insertion polymorphisms in Africans, Asians and EuropeansFile name: Bamshad_continental_alu_100.txt Refers to figures: 1a,1b,3a Column 1: Af, African; Eu, European; As, Asian. Column 2: continent code. Columns 3–103: Alu genotypes: 0, absent; 1, present. The genotype of each individual occupies 2 lines of text. Missing data indicated by ‘-9’. (TXT 84 kb)


supplementary information S2 (data)500 SNPs (minor allele) in Genaissance panel File name: Genaissance_panel_snps_500.txt Refers to figure: 1c Column 1: Af, African; Eu, European; As, Asian.Missing data indicated by ‘X’. (TXT 120 kb)


supplementary information S3 (data)250 SNPs (minor allele) in Genaissance panel File name: Genaissance_panel_snps_250.txtRefers to figure: 1d Column 1: Af, African; Eu, European; As, Asian.Missing data indicated by ‘X’. (TXT 60 kb)


supplementary information S4 (data)377 STRs typed in 1,066 individuals from CEPH diversity panel File name: Rosenberg_ceph_subset_str.txt Refers to figure: 2 Column 1: continent ID (Af, African; Eu, European; As, Asian) and individual ID. Genotypes scored by allele size and alleles at each locus are separated by a ‘.’. Missing data indicated by ‘?’. (TXT 3300 kb)


supplementary information S5 (data)60 STRs typed in Africans, Asians and Europeans File name: Bamshad_continental_str_60.txt Refers to figure: 3b Column 1: Af, African; Eu, European; As, Asian. Column 2: continent code. Columns 3–63: STR genotypes scored by relative size of allele. The genotype of each individual occupies 2 lines of text. Missing data indicated by ‘-9’. (TXT 56 kb)


supplementary information S6 (data)SNP (minor allele) frequencies from 3,391 genes resequenced in African and European–Americans in Geniassance panel File name: Genaissance_panel_snps_50k.txt Refers to figure: 4 Column 1: q_Af, African; q_Eu, European. (TXT 623 kb)

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CEPH Human Diversity Panel



Organization of a population into sub-populations as a consequence of factors such as finite population size and geographical subdivision.


A group of individuals that establishes a new population.


Nonrandom choice of mates based on phenotypic characteristics such as geographical proximity, skin colour, height or religion.


Fluctuations of allele frequencies over time due to chance alone.


A statistic that quantifies the dispersion of data about the mean.


A gradient in the frequency of an allele.


The mixing of two or more genetically differentiated populations.


A measurable trait that depends on the cumulative action of many genes and that can vary among individuals over a given range to produce a continuous distribution of phenotypes. Common examples include height, weight and blood pressure.


A type of natural selection in which favoured variants increase in frequency in a localized geographical region.


This group is defined by variants in a chemokine receptor that is present on the surface of several types of cell, including red blood cells. This receptor must be present for Plasmodium vivax to invade cells and cause malaria.


A process in which traits evolve to a similar state in two or more genetically distinct populations, typically as an adaptive response.


A selection regime that results in the maintenance of two or more alleles at a single locus in a population.


A resource of 1,064 cultured lymphoblastoid cell lines from individuals in 51 different world populations that are banked at the Foundation Jean Dausset (CEPH) in Paris, France.


A statistic similar to FST that is used to estimate differentiation among groups by using microsatellite markers.


The selection of samples (such as markers, individuals, populations) through a process that often deviates from random sampling and can therefore introduce bias.


The combination of alleles or genetic markers that is found on a single chromosome of a given individual.


An autosomal recessive condition that is common in Western Europeans and their descendants. It is characterized by excessive iron absorption by the gut, with subsequent accumulation in the liver, heart, joints and pancreas.


An autosomal recessive condition that is common in Western Europeans and their descendants. It is characterized by pancreatic insufficiency and obstruction of the lungs by thick, heavy mucus.


The proportion of individuals with a specific genotype who manifest this genotype at the phenotype level.


A trait that is influenced by the environment plus a combination of polymorphisms in at least several genes, each of which has a small effect.


A strategy for mapping loci for complex traits that differ in prevalence between two populations that have recently admixed with each other.

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Bamshad, M., Wooding, S., Salisbury, B. et al. Deconstructing the relationship between genetics and race. Nat Rev Genet 5, 598–609 (2004).

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