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

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Pysyväisosoite

http://hdl.handle.net/10138/317841

Lähdeviite

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

Julkaisun nimi: Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania
Tekijä: Malaria Genomic Epidemiology Net; Band, Gavin; Le, Quang Si; Clarke, Geraldine M.; Kivinen, Katja; Spencer, Chris C. A.
Tekijän organisaatio: HUS Gynecology and Obstetrics
Päiväys: 2019-12-16
Kieli: eng
Sivumäärä: 19
Kuuluu julkaisusarjaan: Nature Communications
ISSN: 2041-1723
DOI-tunniste: https://doi.org/10.1038/s41467-019-13480-z
URI: http://hdl.handle.net/10138/317841
Tiivistelmä: 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.
Avainsanat: PLASMODIUM-FALCIPARUM
BLOOD-GROUP
TRANSCRIPTOME ANALYSES
ASSOCIATION ANALYSIS
RESISTANCE LOCI
GENE-EXPRESSION
GENOTYPE
DISEASE
ALLELE
IDENTIFICATION
3111 Biomedicine
11832 Microbiology and virology
Vertaisarvioitu: Kyllä
Tekijänoikeustiedot: cc_by
Pääsyrajoitteet: openAccess
Rinnakkaistallennettu versio: publishedVersion


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