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

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Malaria Genomic Epidemiology Net , Band , G , Le , Q S , Clarke , G M , Kivinen , K & Spencer , C C A 2019 , ' Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania ' , Nature Communications , vol. 10 , 5732 . https://doi.org/10.1038/s41467-019-13480-z

Title: Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania
Author: Malaria Genomic Epidemiology Net; Band, Gavin; Le, Quang Si; Clarke, Geraldine M.; Kivinen, Katja; Spencer, Chris C. A.
Contributor: University of Helsinki, HUS Gynecology and Obstetrics
Date: 2019-12-16
Language: eng
Number of pages: 19
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/317841
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 thegenetic determinants of malaria resistance in diverse populations.
Subject: PLASMODIUM-FALCIPARUM
BLOOD-GROUP
TRANSCRIPTOME ANALYSES
ASSOCIATION ANALYSIS
RESISTANCE LOCI
GENE-EXPRESSION
GENOTYPE
DISEASE
ALLELE
IDENTIFICATION
3111 Biomedicine
11832 Microbiology and virology
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