Genome Medicine

Search Genome Medicine for
Advanced Search
Genome Medicine
Tools
Commentary

Human population structure, genome autozygosity and human health

Harry Campbell1*, Igor Rudan12, Alan H Bittles3 and Alan F Wright4

Author Affiliations

1 Centre for Population Health Sciences, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK

2 Croatian Centre for Global Health, University of Split, Croatia

3 Centre for Comparative Genomics, Murdoch University, Perth, WA 6150, Australia

4 Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh EH4 2XU, UK


For all author emails, please log on.

Genome Medicine 2009, 1:91 doi:10.1186/gm91

Published: 28 September 2009

Abstract

A major transition in human population structure is currently under way, moving from a historical metapopulation, comprising small and mainly rural endogamous communities, to large and increasingly panmictic urban populations. This process is predicted to increase outbreeding, and preliminary data from genomic surveys have helped to quantify the potential magnitude of the effects. Population genetic trends of this nature should result in a reduced burden of recessive disorders, and have a favourable impact on complex diseases influenced by partially recessive genetic variants of smaller effect. The overall outcome is expected to be beneficial for a range of traits associated with human health and disease that show dominance variance.