Recent explosive human population growth has resulted in an excess of rare genetic variants

TitleRecent explosive human population growth has resulted in an excess of rare genetic variants
Publication TypeJournal Article
Year of Publication2012
AuthorsKeinan A, Clark AG
JournalScience
Volume336
Pagination740–743
ISSN1095-9203
KeywordsAsian Continental Ancestry Group, European Continental Ancestry Group, Gene Frequency, Genetic, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Genetics, Genome, Haplotypes, Heterozygote, Human, Humans, Models, Mutation, Polymorphism, Population, Population Density, Population Growth, Sample Size, Sequence Analysis, Single Nucleotide, {DNA}
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.

URLhttp://keinanlab.cb.bscb.cornell.edu/sites/default/files/papers/keinan_clark_2012_recentexplosive_science.pdf
DOI10.1126/science.1217283