Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

被引：381

作者：

Keinan, Alon ^{[1
]}

Clark, Andrew G. ^{[1
,2
]}

机构：

[1] Cornell Univ, Dept Biol Stat & Computat Biol, Ithaca, NY 14853 USA

[2] Cornell Univ, Dept Mol Biol & Genet, Ithaca, NY 14853 USA

来源：

SCIENCE | 2012年 / 336卷 / 6082期

关键词：

MISSING HERITABILITY; COALESCENT; SPECTRUM; DISEASE; SAMPLE; COMMON; RISK;

D O I：

10.1126/science.1217283

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：740 / 743

页数：4

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