Mbarek Hamdi, Devadoss Gandhi Geethanjali, Selvaraj Senthil, Al-Muftah Wadha, Badji Radja, Al-Sarraj Yasser, Saad Chadi, Darwish Dima, Alvi Muhammad, Fadl Tasnim, Yasin Heba, Alkuwari Fatima, Razali Rozaimi, Aamer Waleed, Abbaszadeh Fatemeh, Ahmed Ikhlak, Mokrab Younes, Suhre Karsten, Albagha Omar, Fakhro Khalid, Badii Ramin, Ismail Said I, Althani Asma
Qatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar.
College of Health & Life Sciences, Hamad Bin Khalifa University, Education City, Doha, Qatar.
Hum Mutat. 2022 Apr;43(4):499-510. doi: 10.1002/humu.24336. Epub 2022 Feb 20.
Despite recent biomedical breakthroughs and large genomic studies growing momentum, the Middle Eastern population, home to over 400 million people, is underrepresented in the human genome variation databases. Here we describe insights from Phase 1 of the Qatar Genome Program with whole genome sequenced 6047 individuals from Qatar. We identified more than 88 million variants of which 24 million are novel and 23 million are singletons. Consistent with the high consanguinity and founder effects in the region, we found that several rare deleterious variants were more common in the Qatari population while others seem to provide protection against diseases and have shaped the genetic architecture of adaptive phenotypes. These results highlight the value of our data as a resource to advance genetic studies in the Arab and neighboring Middle Eastern populations and will significantly boost the current efforts to improve our understanding of global patterns of human variations, human history, and genetic contributions to health and diseases in diverse populations.
尽管近期生物医学取得了突破，大型基因组研究也日益兴起，但拥有4亿多人口的中东地区人群在人类基因组变异数据库中的代表性不足。在此，我们描述了卡塔尔基因组计划第一阶段的研究成果，该计划对来自卡塔尔的6047人进行了全基因组测序。我们识别出超过8800万个变异，其中2400万个是新变异，2300万个是单例变异。与该地区较高的近亲结婚率和奠基者效应一致，我们发现一些罕见的有害变异在卡塔尔人群中更为常见，而其他一些变异似乎对疾病具有保护作用，并塑造了适应性表型的遗传结构。这些结果凸显了我们的数据作为推进阿拉伯及周边中东人群基因研究资源的价值，并将显著推动当前旨在增进我们对全球人类变异模式、人类历史以及不同人群健康和疾病遗传贡献理解的努力。
