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Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

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  • Michael A Nalls
  • Javier Simon-Sanchez
  • J Raphael Gibbs
  • Coro Paisan-Ruiz
  • Jose Tomas Bras
  • Toshiko Tanaka
  • Mar Matarin
  • Sonja Scholz
  • Charles Weitz
  • Tamara B Harris
  • Luigi Ferrucci
  • John Hardy
  • Andrew B Singleton

Abstract

This research investigates the influence of demographic factors on human genetic sub-structure. In our discovery cohort, we show significant demographic trends for decreasing autozygosity associated with population variation in chronological age. Autozygosity, the genomic signature of consanguinity, is identifiable on a genome-wide level as extended tracts of homozygosity. We identified an average of 28.6 tracts of extended homozygosity greater than 1 Mb in length in a representative population of 809 unrelated North Americans of European descent ranging in chronological age from 19–99 years old. These homozygous tracts made up a population average of 42 Mb of the genome corresponding to 1.6% of the entire genome, with each homozygous tract an average of 1.5 Mb in length. Runs of homozygosity are steadily decreasing in size and frequency as time progresses (linear regression, p

Suggested Citation

  • Michael A Nalls & Javier Simon-Sanchez & J Raphael Gibbs & Coro Paisan-Ruiz & Jose Tomas Bras & Toshiko Tanaka & Mar Matarin & Sonja Scholz & Charles Weitz & Tamara B Harris & Luigi Ferrucci & John Ha, 2009. "Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics," PLOS Genetics, Public Library of Science, vol. 5(3), pages 1-7, March.
    • Handle: RePEc:plo:pgen00:1000415
    DOI: 10.1371/journal.pgen.1000415
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    1. Karina Acevedo-Whitehouse & Frances Gulland & Denise Greig & William Amos, 2003. "Disease susceptibility in California sea lions," Nature, Nature, vol. 422(6927), pages 35-35, March.
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    1. Egeland, Jonathan, 2022. "The ups and downs of intelligence: The co-occurrence model and its associated research program," Intelligence, Elsevier, vol. 92(C).

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