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GWAS Study

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

Gurdasani D, Carstensen T, Fatumo S et al.

31675503 PubMed ID
GWAS Study Type
7526 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

GD
Gurdasani D
CT
Carstensen T
FS
Fatumo S
CG
Chen G
FC
Franklin CS
PJ
Prado-Martinez J
BH
Bouman H
AF
Abascal F
HM
Haber M
TI
Tachmazidou I
MI
Mathieson I
EK
Ekoru K
DM
DeGorter MK
NR
Nsubuga RN
FC
Finan C
WE
Wheeler E
CL
Chen L
CD
Cooper DN
SS
Schiffels S
CY
Chen Y
RG
Ritchie GRS
PM
Pollard MO
FM
Fortune MD
MA
Mentzer AJ
GE
Garrison E
BA
Bergström A
HK
Hatzikotoulas K
AA
Adeyemo A
DA
Doumatey A
EH
Elding H
WL
Wain LV
EG
Ehret G
AP
Auer PL
KC
Kooperberg CL
RA
Reiner AP
FN
Franceschini N
MD
Maher D
MS
Montgomery SB
KC
Kadie C
WC
Widmer C
XY
Xue Y
SJ
Seeley J
AG
Asiki G
KA
Kamali A
YE
Young EH
PC
Pomilla C
SN
Soranzo N
ZE
Zeggini E
PF
Pirie F
MA
Morris AP
HD
Heckerman D
TC
Tyler-Smith C
MA
Motala AA
RC
Rotimi C
KP
Kaleebu P
BI
Barroso I
SM
Sandhu MS
Chapter II

Abstract

Summary of the research findings

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.

up to 7,526 African ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

7526
Total Participants
GWAS
Study Type
No
Replicated
Sub-Saharan African
Ancestry
Uganda, South Africa, Ghana, Nigeria, Kenya
Recruitment Country
Chapter IV

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