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PMID: 23733930 Published · ppublish English Historical Article Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Gene flow from North Africa contributes to differential human genetic diversity in southern Europe.

Botigué LR, Henn BM, Gravel S, Maples BK, Gignoux CR, Corona E, Atzmon G, Burns E, Ostrer H, Flores C, Bertranpetit J, Comas D, Bustamante CD

Abstract

Human genetic diversity in southern Europe is higher than in other regions of the continent. This difference has been attributed to postglacial expansions, the demic diffusion of agriculture from the Near East, and gene flow from Africa. Using SNP data from 2,099 individuals in 43 populations, we show that estimates of recent shared ancestry between Europe and Africa are substantially increased when gene flow from North Africans, rather than Sub-Saharan Africans, is considered. The gradient of North African ancestry accounts for previous observations of low levels of sharing with Sub-Saharan Africa and is independent of recent gene flow from the Near East. The source of genetic diversity in southern Europe has important biomedical implications; we find that most disease risk alleles from genome-wide association studies follow expected patterns of divergence between Europe and North Africa, with the principal exception of multiple sclerosis.

Keywords
IBD segments Iberia Maghreb admixture population genetics
MeSH Terms
Africa, Northern Demography Europe Gene Flow/genetics Genetic Variation Genetics, Population Haplotypes/genetics History, Ancient Humans Polymorphism, Single Nucleotide/genetics Whites/genetics,history
Authors & Affiliations
13 authors, click to expand affiliations / ORCID
Botigué Laura R
Institut de Biologia Evolutiva, Consejo Superior de Investigaciones Científicas-Universitat Pompeu Fabra, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain.
Henn Brenna M
Gravel Simon
Maples Brian K
Gignoux Christopher R
Corona Erik
Atzmon Gil
Burns Edward
Ostrer Harry
Flores Carlos
Bertranpetit Jaume
Comas David
Bustamante Carlos D
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
1091-6490
Published
2013-07-16
Epub
2013-00-03
Pages
11791-6
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC3718088
Subset
IM
Grants
NIGMS NIH HHS · R01 GM090087 · United States
NHGRI NIH HHS · R01 HG003229 · United States
NLM NIH HHS · T15 LM007033 · United States
NHGRI NIH HHS · 3R01HG003229 · United States
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