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对中东地区更大范围的遗传变异进行表征以促进疾病基因发现。

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

作者信息

Scott Eric M, Halees Anason, Itan Yuval, Spencer Emily G, He Yupeng, Azab Mostafa Abdellateef, Gabriel Stacey B, Belkadi Aziz, Boisson Bertrand, Abel Laurent, Clark Andrew G, Alkuraya Fowzan S, Casanova Jean-Laurent, Gleeson Joseph G

机构信息

Howard Hughes Medical Institute, Rockefeller University, New York, New York, USA.

Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.

出版信息

Nat Genet. 2016 Sep;48(9):1071-6. doi: 10.1038/ng.3592. Epub 2016 Jul 18.


DOI:10.1038/ng.3592
PMID:27428751
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5019950/
Abstract

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive disease. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized 'genetic purging'. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics.

摘要

大中东地区(GME)一直是人类迁徙和种群混合的中心枢纽。在波斯湾地区、北非和中亚地区,近亲结婚的传统习俗盛行,导致隐性疾病负担加重。在此,我们从1111名无亲缘关系的受试者中生成了一个全外显子组大中东地区变异组。我们在大陆和次区域人群中检测到了显著的多样性和混合情况,这与几个古代奠基人群相对应,几乎没有瓶颈效应的证据。测得的近亲结婚率比其他抽样人群高出一个数量级,大中东地区人群的纯合子片段(ROHs)负担增加,但没有证据表明由于经典理论中的“基因清除”而导致有害变异负担减轻。将该数据库应用于大中东地区人群中未解决的隐性疾病,可将潜在致病变异的数量减少四到七倍。这些结果显示了大中东地区人群中多样化的遗传结构,并为未来孟德尔遗传学和群体遗传学中的人类遗传发现提供了支持。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9615/5019950/955ca0b68b57/nihms788970f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9615/5019950/3f1a3aa64780/nihms788970f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9615/5019950/3c6d25a39b76/nihms788970f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9615/5019950/6f1b76fb004c/nihms788970f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9615/5019950/955ca0b68b57/nihms788970f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9615/5019950/3f1a3aa64780/nihms788970f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9615/5019950/3c6d25a39b76/nihms788970f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9615/5019950/6f1b76fb004c/nihms788970f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9615/5019950/955ca0b68b57/nihms788970f4.jpg

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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

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本文引用的文献

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Nature. 2015-11-19

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