rs116830894 - AVEN

Magnitude 2.2 · 1 study on file

Reported associations

• Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania - Unknown journal (n.d.) · Unknown authors · PubMed 31844061

  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

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