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Insights into malaria susceptibility using genome - wide data on 17,000 individuals from Africa, Asia and Oceania

Abstract:
The human genetic factors that affect resistance to infectious disease are poorly understood. Here we report a genome-wide association study in 17,000 severe malaria cases and population controls from 11 countries, informed by sequencing of family trios and by direct typing of candidate loci in an additional 15,000 samples. We identify five replicable associations with genome-wide levels of evidence including a newly implicated variant on chromosome 6. Jointly, these variants account for around one-tenth of the heritability of severe malaria, which we estimate as ~23% using genome-wide genotypes. We interrogate available functional data and discover an erythroid-specific transcription start site underlying the known association in ATP2B4, but are unable to identify a likely causal mechanism at the chromosome 6 locus. Previously reported HLA associations do not replicate in these samples. This large dataset will provide a foundation for further research on the genetic determinants of malaria resistance in diverse populations.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41467-019-13480-z

Authors

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Oxford college:
St John's College
Role:
Author
ORCID:
0000-0002-5023-0176


More from this funder
Funder identifier:
https://ror.org/029chgv08
Grant:
077383/Z/05/ZZ
More from this funder
Funder identifier:
https://ror.org/03x94j517
Grant:
G0600718


Publisher:
Nature Research
Journal:
Nature Communications More from this journal
Volume:
10
Article number:
5732
Publication date:
2019-12-16
Acceptance date:
2019-11-11
DOI:
EISSN:
2041-1723
ISSN:
2041-1723


Language:
English
Keywords:
Pubs id:
pubs:1071344
UUID:
uuid:4f6fa1d6-210c-48f0-8955-b103dbfa4382
Local pid:
pubs:1071344
Source identifiers:
1071344
Deposit date:
2019-11-12
ARK identifier:

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