Abstract

Human populations have experienced recent explosive growth, expanding by at least three orders of magnitude over the past 400 generations. This departure from equilibrium skews patterns of genetic variation and distorts basic principles of population genetics. We characterized the empirical signatures of explosive growth on the site frequency spectrum and found that the discrepancy in rare variant abundance across demographic modeling studies is mostly due to differences in sample size. Rapid recent growth increases the load of rare variants and is likely to play a role in the individual genetic burden of complex disease risk. Hence, the extreme recent human population growth needs to be taken into consideration in studying the genetics of complex diseases and traits.

Links

Publisher Full Text

Authors

Keinan A, Clark AG

Institution

Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA. ak735@cornell.edu

Source

Science (New York, N.Y.) 336:6082 2012 May 11 pg 740-3

MeSH

Asian Continental Ancestry Group
European Continental Ancestry Group
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genetics, Population
Genome, Human
Haplotypes
Heterozygote
Humans
Models, Genetic
Mutation
Polymorphism, Single Nucleotide
Population Density
Population Growth
Sample Size
Sequence Analysis, DNA

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22582263