Genetic fine mapping and functional analysis of three chromosomal loci associated with resistance to severe falciparum malaria in humans

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A genetic fine mapping approach will be used to search for causal variants of three genetic loci on chromosomes 1p32, 2p22.3, and 16p22.2, which had been shown to influence the risk for severe malaria in humans. The genotyping will include of 25,000 SNP markers of the target regions. Additional SNPs, insertions and deletions will be imputed into the dataset. Logistic regression will be used in the assessment of association. Association signals will be confirmed in a second Ghanaian Study group of 3542 individuals. It is proposed to elucidate the biological function of the most associated variants by comparison with expression quantitative trait (eQTL) databases and by multiple empirical techniques in relevant tissues using context-specific assays.