5月11日,，國際著名雜志Science在線刊登了國外研究人員的最新研究成果“Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants，”,，文章中,，研究者揭示了自人類數(shù)量激增以來出現(xiàn)了更多的罕見等位基因。

據(jù)研究人員報(bào)告,，人類群體中的罕見基因變異體數(shù)量隨著人口數(shù)在過去的1萬年間的暴增而有所增加,。這些發(fā)現(xiàn)對模擬人口變化的遺傳模型有影響，因?yàn)檫@些模型通常是以數(shù)目相對較少的完全獲得了測序的基因組為基礎(chǔ)的。眾所周知,，人類種群在過去的400個(gè)世代中至少擴(kuò)大了3個(gè)數(shù)量級,，而其真正開始大規(guī)模擴(kuò)大是在過去的2000年中。

但是,，該種增長對我們基因組的影響則不甚清楚,。應(yīng)用人類基因組的數(shù)據(jù)，Alon Keinan 和 Andrew Clark檢測了人群數(shù)目的增長對我們探查罕見基因變異能力的影響,。他們發(fā)現(xiàn),，在人類基因組中的罕見變異體數(shù)目比那些沒有考慮這一人口快速增長的人口遺傳模型，或由樣本規(guī)模相對較小的實(shí)證研究所決定的人口遺傳模型所預(yù)測的要大得多,。相反,，結(jié)合了這一高增長率的較大種群的研究則能較好地識別突變的頻率。（生物谷Bioon.com）

doi:10.1126/science.1217283
PMC:
PMID:
Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

Alon Keinan1,*, Andrew G. Clark1,2

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.