英国剑桥大学Manj S. Sandhu和Ines Barroso以及乌干达医学信息中心（UMIC）Pontiano Kaleebu等研究团队发现，乌干达的基因组资源有助于了解非洲的人口历史和基因特征。该成果发表在10月31日出版的《细胞》杂志上。

在同类研究中，规模最大的研究包括来自乌干达农村地区的6,400个人的全基因组数据和来自1,978个人的全基因组序列，他们发现了与地理相关的小规模人口子结构的证据。从历史上看，现代乌干达人的祖先最能代表古代东非牧民。

他们展示了迄今为止非洲最大的测序数据作为推算资源。通过检查34个心脏代谢特点，他们将展示欧洲和非洲人群之间的遗传特质的系统差异，这可能反映了基因和环境的不同影响。在多达14,126个个体的多性状泛非GWAS数据中，他们确定了与人体测量，血液学，脂质和血糖性状相关的新型基因座。他们发现，几个功能上重要的信号是由非洲特定的变体驱动的，突出了研究整个地区不同人群的价值。

据悉，非洲人群的基因组研究为了解疾病病因、人类多样性和人口史提供了独特的机遇。

附；英文原文

Title: Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

Author: Deepti Gurdasani, Tommy Carstensen, Segun Fatumo, Guanjie Chen, Chris S. Franklin, Javier Prado-Martinez, Heleen Bouman, Federico Abascal, Marc Haber, Ioanna Tachmazidou, Iain Mathieson, Kenneth Ekoru, Marianne K. DeGorter, Rebecca N. Nsubuga, Chris Finan, Eleanor Wheeler, Li Chen, David N. Cooper, Stephen Schiffels, Yuan Chen, Graham R.S. Ritchie, Martin O. Pollard, Mary D. Fortune, Alex J. Mentzer, Erik Garrison, Anders Bergstrm, Konstantinos Hatzikotoulas, Adebowale Adeyemo, Ayo Doumatey, Heather Elding, Louise V. Wain, George Ehret, Paul L. Auer, Charles L. Kooperberg, Alexander P. Reiner, Nora Franceschini, Dermot P. Maher, Stephen B. Montgomery, Carl Kadie, Chris Widmer, Yali Xue, Janet Seeley, Gershim Asiki, Anatoli Kamali, Elizabeth H. Young, Cristina Pomilla, Nicole Soranzo, Eleftheria Zeggini, Fraser Pirie, Andrew P. Morris, David Heckerman, Chris Tyler-Smith, Ayesha Motala, Charles Rotimi, Pontiano Kaleebu, Ines Barroso, Manj S. Sandhu

Issue&Volume: 2019/10/31

Abstract: Genomic studies in African populations provide unique opportunities to understand disease etiology, human diversity, and population history. In the largest study of its kind, comprising genome-wide data from 6,400 individuals and whole-genome sequences from 1,978 individuals from rural Uganda, we find evidence of geographically correlated fine-scale population substructure. Historically, the ancestry of modern Ugandans was best represented by a mixture of ancient East African pastoralists. We demonstrate the value of the largest sequence panel from Africa to date as an imputation resource. Examining 34 cardiometabolic traits, we show systematic differences in trait heritability between European and African populations, probably reflecting the differential impact of genes and environment. In a multi-trait pan-African GWAS of up to 14,126 individuals, we identify novel loci associated with anthropometric, hematological, lipid, and glycemic traits. We find that several functionally important signals are driven by Africa-specific variants, highlighting the value of studying diverse populations across the region.

DOI: 10.1016/j.cell.2019.10.004

Source: https://www.cell.com/cell/fulltext/S0092-8674(19)31120-1