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Human Molecular Genetics Advance Access published online on January 12, 2007
Human Molecular Genetics, doi:10.1093/hmg/ddl473
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© The Author 2007. Published by Oxford University Press. All rights reserved

Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traits

Harry Campbell1,*,, Andrew D. Carothers2,*, Igor Rudan1,3,*, Caroline Hayward2, Zrinka Biloglav3, Lovorka Barac4, Marijana Pericic4, Branka Janicijevic4, Nina Smolej-Narancic4, Ozren Polasek1,3, Ivana Kolcic3, James L. Weber5, Nicholas D. Hastie2, Pavao Rudan4 and Alan F. Wright2

1 Department of Public Health Sciences, University of Edinburgh, Edinburgh, UK 2 MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK 3 Department of Public Health, University of Zagreb, Zagreb, Croatia 4 Institute of Anthropological Research, Zagreb, Croatia 5 Molecular Diagnostic Genotyping Laboratory, Marshfield Clinic Research Foundation, Marshfield, USA

Professor Harry Campbell, Public Health Sciences, University of Edinburgh, Teviot Place, Edinburgh, Scotland EH8 9AG. Harry.Campbell{at}ed.ac.uk Tel +44 (0) 131 650 6984; Fax +44 (0) 131 650 6909

Received August 20, 2006; Revised December 17, 2006; Accepted December 17, 2006

The dramatic changes in human population structure over the last 200 years have resulted in significant levels of outbreeding which in turn is predicted to lead to increased levels of individual genetic diversity (genome-wide heterozygosity - h). To investigate possible effects of these large demographic changes on global health, we studied the effect of h, measured as relative heterozygosity - hR, on 15 disease-related traits in four groups of individuals with widely differing ancestral histories (ranging from outbred to inbred) from the Dalmatian islands in Croatia. Higher levels of hR, estimated using 1,184 STR/indel markers, were found in the outbred group (p< 0.0001) and were associated with lower blood pressure and total/LDL cholesterol (p= 0.01 and 0.01 respectively) after controlling for other factors, with blood pressure showing a strong sex effect (males p> 0.5; females p=0.002). These findings, if replicated, suggest that hR be considered as a genetic risk factor in genetic epidemiological studies on common disease traits. They are consistent with the well known effects of heterosis (hybrid vigour) described when outcrossing animals and plants. Outbreeding resulting from urbanisation and migration from traditional population subgroups may be leading to increasing hR and may have beneficial effects on a range of traits associated with human health and disease. Other traits, such as age at menarche, IQ and lifespan, which have been changing during the decades of urbanisation, may also have been influenced by demographic factors.

* These authors contributed equally.


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