Measures of autozygosity in decline: Globalization, urbanization, and its implications for medical genetics

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

doi:10.1371/journal.pgen.1000415

Measures of autozygosity in decline: Globalization, urbanization, and its implications for medical genetics

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

Research output: Contribution to journal › Article › peer-review

57 Scopus citations

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

Original language	English (US)
Journal	PLoS Genetics
Volume	5
Issue number	3
DOIs	https://doi.org/10.1371/journal.pgen.1000415
State	Published - Mar 2009
Externally published	Yes

ASJC Scopus subject areas

Genetics
Molecular Biology
Ecology, Evolution, Behavior and Systematics
Cancer Research
Genetics(clinical)

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10.1371/journal.pgen.1000415

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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",

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AU - Paisan-Ruiz, Coro

AU - Bras, Jose Tomas

AU - Tanaka, Toshiko

AU - Matarin, Mar

AU - Scholz, Sonja

AU - Weitz, Charles

AU - Harris, Tamara B.

AU - Ferrucci, Luigi

AU - Hardy, John

AU - Singleton, Andrew B.

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Measures of autozygosity in decline: Globalization, urbanization, and its implications for medical genetics

Abstract

ASJC Scopus subject areas

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