Present address: Departments of Anesthesia and Medicine, and Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Genome-Wide Patterns of Genetic Distances Reveal Candidate Loci Contributing to Human Population-Specific Traits
Article first published online: 22 DEC 2011
© 2011 The Authors Annals of Human Genetics © 2011 Blackwell Publishing Ltd/University College London
Annals of Human Genetics
Volume 76, Issue 2, pages 142–158, March 2012
How to Cite
de Magalhães, J. P. and Matsuda, A. (2012), Genome-Wide Patterns of Genetic Distances Reveal Candidate Loci Contributing to Human Population-Specific Traits. Annals of Human Genetics, 76: 142–158. doi: 10.1111/j.1469-1809.2011.00695.x
- Issue published online: 15 FEB 2012
- Article first published online: 22 DEC 2011
- Received: 27 August 2011, Accepted: 17 November 2011
- Genetic variation;
- human evolution;
- Out-of-Africa hypothesis;
- population genetics;
Modern humans originated in Africa before migrating across the world with founder effects and adaptations to new environments contributing to their present phenotypic diversity. Determining the genetic basis of differences between populations may provide clues about our evolutionary history and may have clinical implications. Herein, we develop a method to detect genes and biological processes in which populations most differ by calculating the genetic distance between modern populations and a hypothetical ancestral population. We apply our method to large-scale single nucleotide polymorphism (SNP) data from human populations of African, European and Asian origin. As expected, ancestral alleles were more conserved in the African populations and we found evidence of high divergence in genes previously suggested as targets of selection related to skin pigmentation, immune response, senses and dietary adaptations. Our genome-wide scan also reveals novel candidates for contributing to population-specific traits. These include genes related to neuronal development and behavior that may have been influenced by cultural processes. Moreover, in the African populations, we found a high divergence in genes related to UV protection and to the male reproductive system. Taken together, these results confirm and expand previous findings, providing new clues about the evolution and genetics of human phenotypic diversity.