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

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

Gurdasani, Deepti 
Carstensen, Tommy 
Fatumo, Segun 
Chen, Guanjie 
Franklin, Chris S 

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.

Description

Keywords

Black People, Female, Gene Frequency, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Genomics, Humans, Male, Polymorphism, Single Nucleotide, Uganda, Whole Genome Sequencing

Journal Title

Cell

Conference Name

Journal ISSN

0092-8674
1097-4172

Volume Title

179

Publisher

Elsevier
Sponsorship
Medical Research Council (G0801566)
Medical Research Council (G0901213)
Medical Research Council (MR/K013491/1)
Wellcome Trust (091310/Z/10/Z)
Wellcome Trust (107743/Z/15/Z)
Medical Research Council (MC_EX_MR/L016273/1)
Wellcome Trust (099772/Z/12/Z)
European Commission (257082)
Medical Research Council (G0801566/1)
Medical Research Council (G0901213/1)
Main funding: This work was funded by the Wellcome Trust, The Wellcome Sanger Institute (WT098051), the U.K. Medical Research Council (G0901213-92157, G0801566, and MR/K013491/1), and the Medical Research Council/Uganda Virus Research Institute Uganda Research Unit on AIDS core funding.