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Population Aspects of Consanguinity

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Population-Genetic Influences on Genomic Estimates of the Inbreeding Coefficient: A Global Perspective

Pemberton T.J.a · Rosenberg N.A.b

Author affiliations

aDepartment of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Man., Canada; bDepartment of Biology, Stanford University, Stanford, Calif., USA

Corresponding Author

Dr. Trevor J. Pemberton

Department of Biochemistry and Medical Genetics

University of Manitoba, 745 Bannatyne Avenue

Winnipeg, MB R3E 0J9 (Canada)

E-Mail pembertont@med.umanitoba.ca

Related Articles for ""

Hum Hered 2014;77:37-48

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Abstract

Background/Aims: Culturally driven marital practices provide a key instance of an interaction between social and genetic processes in shaping patterns of human genetic variation, producing, for example, increased identity by descent through consanguineous marriage. A commonly used measure to quantify identity by descent in an individual is the inbreeding coefficient, a quantity that reflects not only consanguinity, but also other aspects of kinship in the population to which the individual belongs. Here, in populations worldwide, we examine the relationship between genomic estimates of the inbreeding coefficient and population patterns in genetic variation. Methods: Using genotypes at 645 microsatellites, we compare inbreeding coefficients from 5,043 individuals representing 237 populations worldwide to demographic consanguinity frequency estimates available for 26 populations as well as to other quantities that can illuminate population-genetic influences on inbreeding coefficients. Results: We observe higher inbreeding coefficient estimates in populations and geographic regions with known high levels of consanguinity or genetic isolation and in populations with an increased effect of genetic drift and decreased genetic diversity with increasing distance from Africa. For the small number of populations with specific consanguinity estimates, we find a correlation between inbreeding coefficients and consanguinity frequency (r = 0.349, p = 0.040). Conclusions: The results emphasize the importance of both consanguinity and population-genetic factors in influencing variation in inbreeding coefficients, and they provide insight into factors useful for assessing the effect of consanguinity on genomic patterns in different populations.

© 2014 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Population Aspects of Consanguinity

Published online: July 29, 2014
Issue release date: July 2014

Number of Print Pages: 12
Number of Figures: 4
Number of Tables: 1

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: http://www.karger.com/HHE


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