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GWAS Study

Meta-analysis of African ancestry genome-wide association studies identified novel locus and validates multiple loci associated with kidney function.

Kintu C, Soremekun O, Machipisa T et al.

37644460 PubMed ID
GWAS Study Type
80027 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

KC
Kintu C
SO
Soremekun O
MT
Machipisa T
MR
Mayanja R
KR
Kalyesubula R
BB
Bagaya BS
JD
Jjingo D
CT
Chikowore T
FS
Fatumo S
Chapter II

Abstract

Summary of the research findings

Despite recent efforts to increase diversity in genome-wide association studies (GWASs), most loci currently associated with kidney function are still limited to European ancestry due to the underlying sample selection bias in available GWASs. We set out to identify susceptibility loci associated with estimated glomerular filtration rate (eGFRcrea) in 80027 individuals of African-ancestry from the UK Biobank (UKBB), Million Veteran Program (MVP), and Chronic Kidney Disease genetics (CKDGen) consortia.We identified 8 lead SNPs, 7 of which were previously associated with eGFR in other populations. We identified one novel variant, rs77408001 which is an intronic variant mapped to the ELN gene. We validated three previously reported loci at GATM-SPATA5L1, SLC15A5 and AGPAT3. Fine-mapping analysis identified variants rs77121243 and rs201602445 as having a 99.9% posterior probability of being causal. Our results warrant designing bigger studies within individuals of African ancestry to gain new insights into the pathogenesis of Chronic Kidney Disease (CKD), and identify genomic variants unique to this ancestry that may influence renal function and disease.

80,027 African ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

80027
Total Participants
GWAS
Study Type
No
Replicated
African unspecified
Ancestry
U.S., U.K.
Recruitment Country
Chapter IV

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