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

一种遗传精细作图方法将用于寻找染色体1p32、2p22.3和16p22.2上三个遗传基因座的致病变异体，这些变异体已被证明会影响人类患严重疟疾的风险。基因分型将包括目标区域的25，000个SNP标记。其他SNP、插入和缺失将插补到数据集中。将使用逻辑回归评估相关性。关联信号将在由3542人组成的第二个加纳研究组中得到确认。建议通过与表达数量性状（eQTL）数据库的比较和使用上下文特异性测定在相关组织中的多个经验技术来阐明最相关变体的生物学功能。

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.