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The Influence of the Wahlund Effect on the Consanguinity Hypothesis: Consequences for Recessive Disease Incidence in a Socially Structured Pakistani Population
Author(s) -
Andrew Overall
Publication year - 2008
Publication title -
human heredity
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.423
H-Index - 62
eISSN - 1423-0062
pISSN - 0001-5652
DOI - 10.1159/000179561
Subject(s) - consanguinity , endogamy , population , incidence (geometry) , genetics , consanguineous marriage , founder effect , biology , allele frequency , multifactorial inheritance , allele , demography , genotype , gene , physics , sociology , optics , haplotype , single nucleotide polymorphism
Standard population genetic theory predicts that the relative risk of inheriting recessive disorders between consanguineous and non-consanguineous populations can be manyfold. However, it is rarely considered that consanguineous populations might be composites of socially defined endogamous and genetically differentiated subpopulations. A recent study of a British Pakistani population found evidence to suggest that extended families (biraderi) could contribute significantly to excessive homozygosity over that contributed by consanguinity. This study sets out to illustrate the potential of cryptic population substructure (the Wahlund effect) to contribute to recessive disease incidence in populations with complex social structure.

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