Genetic Differences Within and Between Populations of the Major Human Subgroups

Latter, B. D. H.

doi:10.1086/283624

Cited by 92 publications

(52 citation statements)

References 14 publications

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“…The most apparent difference is that the misclassification rates (C C and C T ) decrease much more rapidly, and to lower values, thanv does as the number of loci considered increases. DISCUSSION It has long been appreciated that differences between human populations account for only a small fraction of the total variance in allele frequencies (typically presented as F ST values of 10-15%; Lewontin 1972;Nei and Roychoudhury 1972;Latter 1980;Barbujani et al 1997;Jorde et al 2000;Watkins et al 2003;International HapMap Consortium 2005;Rosenberg et al 2005). Such observations triggered controversy from the outset.…”

Section: In Anothermentioning

confidence: 99%

Genetic Similarities Within and Between Human Populations

et al. 2007

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The proportion of human genetic variation due to differences between populations is modest, and individuals from different populations can be genetically more similar than individuals from the same population. Yet sufficient genetic data can permit accurate classification of individuals into populations. Both findings can be obtained from the same data set, using the same number of polymorphic loci. This article explains why. Our analysis focuses on the frequency, v, with which a pair of random individuals from two different populations is genetically more similar than a pair of individuals randomly selected from any single population. We compare v to the error rates of several classification methods, using data sets that vary in number of loci, average allele frequency, populations sampled, and polymorphism ascertainment strategy. We demonstrate that classification methods achieve higher discriminatory power than v because of their use of aggregate properties of populations. The number of loci analyzed is the most critical variable: with 100 polymorphisms, accurate classification is possible, but v remains sizable, even when using populations as distinct as sub-Saharan Africans and Europeans. Phenotypes controlled by a dozen or fewer loci can therefore be expected to show substantial overlap between human populations. This provides empirical justification for caution when using population labels in biomedical settings, with broad implications for personalized medicine, pharmacogenetics, and the meaning of race.

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Section: In Anothermentioning

confidence: 99%

Genetic Similarities Within and Between Human Populations

et al. 2007

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“…The withinto between-group variation is very high for genetic polymorphisms (∼85%; refs. 16,17). This means that individuals from one 'race' may be overall more similar to individuals in one of the other 'races' than to other individuals in the same 'race' .…”

Section: Human Races As Human Variationmentioning

confidence: 99%

Conceptualizing human variation

et al. 2004

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“…A PubMed search with the keywords "human races" (January 10, 2002) In contrast, population studies have suggested that genetic variation is essentially continuous through space among humans, and have failed to identify a set of genetically distinct and internally homogeneous groups. Regardless of whether estimated at the protein (Lewontin 1972;Latter 1980), craniometric (Relethford 1994), or DNA (Barbujani et al. 1997, Jorde et al 2000 level, individual differences between members of the same population have been reported to account for about 85% of the overall genetic diversity, and differences between populations within the same continent account for a further 5% to 10%.…”

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confidence: 99%

“…Regardless of whether estimated at the protein (Lewontin 1972;Latter 1980), craniometric (Relethford 1994), or DNA (Barbujani et al 1997, Jorde et al 2000 level, individual differences between members of the same population have been reported to account for about 85% of the overall genetic diversity, and differences between populations within the same continent account for a further 5% to 10%. Only about 10% of variation can be assigned to differences between continental groups.…”

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confidence: 99%

Patterns of Human Diversity, within and among Continents, Inferred from Biallelic DNA Polymorphisms

Romualdi¹,

Balding²,

Nasidze³

et al. 2002

Genome Res.

199

123

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Previous studies have reported that about 85% of human diversity at Short Tandem Repeat (STR) and Restriction Fragment Length Polymorphism (RFLP) autosomal loci is due to differences between individuals of the same population, whereas differences among continental groups account for only 10% of the overall genetic variance. These findings conflict with popular notions of distinct and relatively homogeneous human races, and may also call into question the apparent usefulness of ethnic classification in, for example, medical diagnostics. Here, we present new data on 21 Alu insertions in 32 populations. We analyze these data along with three other large, globally dispersed data sets consisting of apparently neutral biallelic nuclear markers, as well as with a ␤-globin data set possibly subject to selection. We confirm the previous results for the autosomal data, and find a higher diversity among continents for Y-chromosome loci. We also extend the analyses to address two questions: (1) whether differences between continental groups, although small, are nevertheless large enough to confidently assign individuals to their continent on the basis of their genotypes; (2) whether the observed genotypes naturally cluster into continental or population groups when the sample source location is ignored. Using a range of statistical methods, we show that classification errors are at best around 30% for autosomal biallelic polymorphisms and 27% for the Y chromosome. Two data sets suggest the existence of three and four major groups of genotypes worldwide, respectively, and the two groupings are inconsistent. These results suggest that, at random biallelic loci, there is little evidence, if any, of a clear subdivision of humans into biologically defined groups.In various areas of applied genetics, it is customary to regard the human species as divided in distinct and objectively recognizable groups. Forensic scientists compare DNA profiles from the place of a crime with databases from the general population, usually grouped into broad racial categories (for instance, African-American, European-American, Asian, and Hispanic), to estimate the probability that an unrelated individual would have the identical DNA profile. The markers chosen for DNA profiling are considered to be essentially uniform across populations of the same category. Although the existence of problems with group definition has been acknowledged (e.g., Weir 2001), the fact that some individuals may not be easy to allocate to any such group is usually regarded as unimportant (National Research Council 1992;Lander and Budowle 1994;Morton 1994;Roeder 1994;Gill and Evett 1995). In clinical practice, a correlation of racial affiliation, as assessed from skin color, facial characteristics, hair texture, and so forth, with disease pathology and drug response is widely believed to exist. A PubMed search with the keywords "human races" (January 10, 2002) In contrast, population studies have suggested that genetic variation is essentially continuous through space amon...

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Genetic Differences Within and Between Populations of the Major Human Subgroups

Cited by 92 publications

References 14 publications

Genetic Similarities Within and Between Human Populations

Genetic Similarities Within and Between Human Populations

Conceptualizing human variation

Patterns of Human Diversity, within and among Continents, Inferred from Biallelic DNA Polymorphisms

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