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Gurdasani, D.* ; Carstensen, T.* ; Fatumo, S.* ; Chen, G.* ; Franklin, C.S.* ; Prado-Martinez, J.* ; Bouman, H.* ; Abascal, F.* ; Haber, M.* ; Tachmazidou, I.* ; Mathieson, I.* ; Ekoru, K.* ; DeGorter, M.K.* ; Nsubuga, R.N.* ; Finan, C.* ; Wheeler, E.* ; Chen, L.* ; Cooper, D.N.* ; Schiffels, S.* ; Chen, Y.* ; Ritchie, G.R.S.* ; Pollard, M.O.* ; Fortune, M.D.* ; Mentzer, A.J.* ; Garrison, E.* ; Bergström, A.* ; Hatzikotoulas, K.* ; Adeyemo, A.* ; Doumatey, A.* ; Elding, H.* ; Wain, L.V.* ; Ehret, G.* ; Auer, P.L.* ; Kooperberg, C.L.* ; Reiner, A.P.* ; Franceschini, N.* ; Maher, D.P.* ; Montgomery, S.B.* ; Kadie, C.* ; Widmer, C.* ; Xue, Y.* ; Seeley, J.* ; Asiki, G.* ; Kamali, A.* ; Young, E.H.* ; Pomilla, C.* ; Soranzo, N.* ; Zeggini, E. ; Pirie, F.* ; Morris, A.P.* ; Heckerman, D.* ; Tyler-Smith, C.* ; Motala, A.* ; Rotimi, C.* ; Kaleebu, P.* ; Barroso, I.* ; Sandhu, M.S.*

Uganda Genome Resource enables insights into population history and genomic discovery in Africa.

Cell 179, 984-1002.e36 (2019)
Verlagsversion Postprint Forschungsdaten DOI
Open Access Green
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Omron M6 Hem-7001-e; Density-lipoprotein Cholesterol; Single-nucleotide Polymorphisms; Approved Recommendation 1985; Multiple-testing Correction; Pressure Measuring Device; Wide Association; International Protocol; Natural-selection; Blood-pressure
ISSN (print) / ISBN 0092-8674
e-ISSN 1097-4172
Zeitschrift Cell
Quellenangaben Band: 179, Heft: 4, Seiten: 984-1002.e36 Artikelnummer: , Supplement: ,
Verlag Cell Press
Verlagsort Cambridge, Mass.
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Translational Genomics (ITG)