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Genetic diversity is a predictor of mortality in humans

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  • Nathan A Bihlmeyer
  • Jennifer A Brody
  • Albert Smith
  • Kathryn L Lunetta
  • Mike Nalls
  • Jennifer A Smith
  • Toshiko Tanaka
  • Lei Yu
  • Saira Mirza
  • Alexander Teumer
  • Josef Coresh
  • James S Pankow
  • Nora Franceschini
  • Anish Scaria
  • Junko Oshima
  • Bruce M Psaty
  • Vilmundur Gudnason
  • Gudny Eiriksdottir
  • Tamara B Harris
  • Hanyue Li
  • David Karasik
  • Douglas P Kiel
  • Melissa Garcia
  • Yongmei Liu
  • Jessica D Faul
  • Sharon Kardia
  • Wei Zhao
  • Luigi Ferrucci
  • Michael Allerhand
  • David C Liewald
  • Paul Redmond
  • Philip L De Jager
  • Denis A Evans
  • Nese Direk
  • Mohammed Ikram
  • Andre Uitterlinden
  • Georg Homuth
  • Roberto Lorbeer
  • Hans J Grabe
  • Lenore Launer
  • Joanne M Murabito
  • Andrew B Singleton
  • David R Weir
  • Stefania Bandinelli
  • David A Bennett
  • Henning Tiemeier
  • Thomas Kocher
  • Thomas Lumley
  • Dan E Arking

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    Rights statement: © 2014 Bihlmeyer et al.; licensee Biomed Central. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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    Licence: Creative Commons: Attribution (CC-BY)

Original languageEnglish
Article number159
JournalBMC Genetics
Issue number1
Publication statusPublished - 29 Dec 2014


BackgroundIt has been well-established, both by population genetics theory and direct observation in many organisms, that increased genetic diversity provides a survival advantage. However, given the limitations of both sample size and genome-wide metrics, this hypothesis has not been comprehensively tested in human populations. Moreover, the presence of numerous segregating small effect alleles that influence traits that directly impact health directly raises the question as to whether global measures of genomic variation are themselves associated with human health and disease.ResultsWe performed a meta-analysis of 17 cohorts followed prospectively, with a combined sample size of 46,716 individuals, including a total of 15,234 deaths. We find a significant association between increased heterozygosity and survival (P¿=¿0.03). We estimate that within a single population, every standard deviation of heterozygosity an individual has over the mean decreases that person¿s risk of death by 1.57%.ConclusionsThis effect was consistent between European and African ancestry cohorts, men and women, and major causes of death (cancer and cardiovascular disease), demonstrating the broad positive impact of genomic diversity on human survival.

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