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

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dc.contributor.author Malaria Genomic Epidemiology Net
dc.contributor.author Band, Gavin
dc.contributor.author Le, Quang Si
dc.contributor.author Clarke, Geraldine M.
dc.contributor.author Kivinen, Katja
dc.contributor.author Spencer, Chris C. A.
dc.date.accessioned 2020-07-21T09:33:02Z
dc.date.available 2020-07-21T09:33:02Z
dc.date.issued 2019-12-16
dc.identifier.citation 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
dc.identifier.other PURE: 136197106
dc.identifier.other PURE UUID: f881b59f-52ba-41fc-9a15-78048be715be
dc.identifier.other WOS: 000502769900001
dc.identifier.other ORCID: /0000-0002-1135-7625/work/77849401
dc.identifier.uri http://hdl.handle.net/10138/317841
dc.description.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. en
dc.format.extent 19
dc.language.iso eng
dc.relation.ispartof Nature Communications
dc.rights cc_by
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject PLASMODIUM-FALCIPARUM
dc.subject BLOOD-GROUP
dc.subject TRANSCRIPTOME ANALYSES
dc.subject ASSOCIATION ANALYSIS
dc.subject RESISTANCE LOCI
dc.subject GENE-EXPRESSION
dc.subject GENOTYPE
dc.subject DISEASE
dc.subject ALLELE
dc.subject IDENTIFICATION
dc.subject 3111 Biomedicine
dc.subject 11832 Microbiology and virology
dc.title Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania en
dc.type Article
dc.contributor.organization HUS Gynecology and Obstetrics
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1038/s41467-019-13480-z
dc.relation.issn 2041-1723
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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