Geography predicts neutral genetic diversity of human populations

Prugnolle, Franck; Manica, Andrea; Balloux, François

doi:10.1016/j.cub.2005.02.038

Cited by 366 publications

(430 citation statements)

References 9 publications

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“…Serre and Pääbo (2004) did suggest that the clusters were artifacts generated by heterogeneous sampling and that they would vanish if more populations were analyzed. Our recent work (Prugnolle et al 2005a;Prugnolle et al 2005b) provides some support to their claim. We show that geographic distance from East Africa along likely colonization routes is an excellent predictor of neutral genetic diversity in a large number of human populations (n=51; R= 93%).…”

Section: Introductionsupporting

confidence: 63%

“…We chose as focal population the Adygei, an ethnic group of the Russian Caucasus. Those distances were obtained using an algorithm based on graph theory that we previously developed (Prugnolle et al 2005a). The advantage of this approach over conventional spatial statistics (as used in GIS software) is that we do not assume the data to be in a Cartesian coordinates system resulting from projecting a spherical surface onto a flat surface.…”

Section: Methodsmentioning

confidence: 99%

“…The smoothness of this relationship suggests no obvious macro-geographic pattern, such as a stepwise decrease in genetic diversity corresponding to a severe bottleneck following the colonization of a continent. This result does question the existence of previously defined ethnic groups (Prugnolle et al 2005a), however the power of the approach in detecting genetic discontinuities is arguably weak. Only genetic diversity within each population was considered, thus discarding information about allele sharing between populations.…”

Section: Introductionmentioning

confidence: 91%

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Geography is a better determinant of human genetic differentiation than ethnicity

2005

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Individuals differ genetically in their susceptibility to particular diseases and their response to drugs. However, personalized treatments are difficult to develop, because disease susceptibility and drug response generally have poorly characterized genetic architecture. It is thus tempting to use the ethnicity of patients to capture some of the variation in allele frequencies at the genes underlying a clinical trait. The success of such a strategy depends on whether human populations can be accurately classified into discrete genetic ethnic groups. Despite the heated discussions and controversies surrounding this issue, there has been essentially no attempt so far to quantify the relative power of ethnic groups and geography at predicting the proportion of shared alleles between human populations. Here, we present the first such quantification using a dataset of 51 populations typed at 377 microsatellite markers, and show that pair-wise geographic distances across landmasses constitute a far better predictor than ethnicity. Allele sharing between human populations decays smoothly with increasing physical distance at a worldwide scale. We discuss the relevance of those patterns for the expected distribution of variants of medical interest. The distribution patterns for genes coding for simple traits are expected to be highly heterogeneous, as most such genes experienced strong natural selection. However variants involved in complex traits are expected to behave essentially neutrally and we expect them to fit closely our predictions based on microsatellites. We conclude that the use of ethnicity alone will often be inadequate as a basis for medical treatment.

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Section: Introductionsupporting

confidence: 63%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 91%

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Geography is a better determinant of human genetic differentiation than ethnicity

2005

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“…Si de nombreux détails restent à clarifier, seule une minorité de chercheurs dans le domaine met en doute une origine africaine récente (~200 000 ans). Il y a 60 000 ans environ, une expansion démographique a entraîné une sortie hors de l'Afrique et la colonisation de tous les continents Ce scénario est fondé sur l'analyse de marqueurs géné-tiques haploïdes (ADN mitochondrial et chromosome Y) [1,2], de marqueurs autosomiques [3][4][5] ainsi que de données morphologiques [6] et archéolo-giques [7].…”

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“…Les populations génétiquement les plus diverses se trouvent sur le continent africain. Le polymorphisme décroît de façon linéaire au fur et à mesure que l'on s'éloigne de l'Afrique, si cette distance est estimée comme la distance la plus courte possible en restant sur la terre ferme autant que possible [3,5]. Cela peut s'expliquer par la colonisation de proche en proche qui a entraîné, à chaque étape, une perte au hasard de certains des allèles présents dans la population parentale.…”

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Helicobacter pylori, notre fidèle compagnon gastrique

Balloux

2007

Med Sci (Paris)

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Reconstructing Human History Using Autosomal, Y‐Chromosomal and Mitochondrial Markers

Yngvadóttir

Carvalho-Silva

2008

Encyclopedia of Life Sciences

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By analysing genetic variation between and within extant human populations it is possible to make inferences about the origins and relationships of our ancestors. Although the autosomes give us a representative account of genomic history in humans, the unique characteristics of the maternally inherited mitochondrial deoxyribonucleic acid (mtDNA) and the paternally inherited Y chromosome can provide information about the histories specific to women and men. Current evidence suggests a recent African origin for modern humans <200 thousand years ago (KYA) and a single small migration out of Africa 50–70 KYA, with progressive loss of diversity with distance from Africa, somewhat complicated by sex‐specific effects and natural selection.

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Geography predicts neutral genetic diversity of human populations

Cited by 366 publications

References 9 publications

Geography is a better determinant of human genetic differentiation than ethnicity

Geography is a better determinant of human genetic differentiation than ethnicity

Helicobacter pylori, notre fidèle compagnon gastrique

Reconstructing Human History Using Autosomal, Y‐Chromosomal and Mitochondrial Markers

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