Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Science. 2012 May 11;336(6082):740-3. doi: 10.1126/science.1217283.

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

Author information

  • 1Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA. ak735@cornell.edu

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.

PMID:
22582263
[PubMed - indexed for MEDLINE]
PMCID:
PMC3586590
Free PMC Article

Images from this publication.See all images (3)Free text

Fig. 1
Fig. 2
Fig. 3
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Write to the Help Desk