Patterns of nucleotide and haplotype diversity at ICAM-1 across global human populations with varying levels of malaria exposure.
Patterns of nucleotide and haplotype diversity at ICAM-1 across global human populations with varying levels of malaria exposure.
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DOI：
10.1007/s00439-013-1284-5
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发表时间：
2013-09
期刊：
影响因子：
5.3
通讯作者：
Tishkoff, Sarah A.
中科院分区：
文献类型：
--
作者：
Gomez, Felicia;Tomas, Gil;Ko, Wen-Ya;Ranciaro, Alessia;Froment, Alain;Ibrahim, Muntaser;Lema, Godfrey;Nyambo, Thomas B.;Omar, Sabah A.;Wambebe, Charles;Hirbo, Jibril B.;Rocha, Jorge;Tishkoff, Sarah A.
疟疾是近代人类进化中最强大的选择压力之一。非洲人口一直并将继续面临疟疾感染的风险。然而，很少有研究对非洲不同地理和遗传群体的疟疾易感位点进行了重新测序。我们在许多人群中研究了细胞间粘附分子-1 （ICAM-1）的核苷酸多样性，ICAM-1是疟疾易感性候选位点，特别关注不同的非洲种族群体。我们使用中性测试来评估自然选择是否影响了该位点，并测试了ICAM-1的SNP变异是否与疟疾流行相关。我们观察到全球人群中核苷酸和单倍型变异的不同模式以及非洲更高水平的多样性。虽然我们没有观察到基于等位基因频率分布的中性偏离，但我们确实观察到ICAM-1上的几个等位基因，包括ICAM-1Kilifi等位基因，与疟疾流行相关。我们发现在非洲和亚洲常见的ICAM-1Kilifi等位基因存在于不同的单倍型背景中，并且可能最近才在亚洲出现。我们的研究结果表明，等位基因频率与疟疾流行的相关性分析可能有助于识别在疟疾抗性和易感性中起作用的候选功能变异。
Malaria is one of the strongest selective pressures in recent human evolution. African populations have been and continue to be at risk for malarial infections. However, few studies have re-sequenced malaria susceptibility loci across geographically and genetically diverse groups in Africa. We examined nucleotide diversity at Intercellular adhesion molecule-1 (ICAM-1), a malaria susceptibility candidate locus, in a number of human populations with a specific focus on diverse African ethnic groups. We used tests of neutrality to assess whether natural selection has impacted this locus and tested whether SNP variation at ICAM-1 is correlated with malaria endemicity. We observe differing patterns of nucleotide and haplotype variation in global populations and higher levels of diversity in Africa. Although we do not observe a deviation from neutrality based on the allele frequency distribution, we do observe several alleles at ICAM-1, including the ICAM-1Kilifi allele, that are correlated with malaria endemicity. We show that the ICAM-1Kilifi allele, which is common in Africa and Asia, exists on distinct haplotype backgrounds and is likely to have arisen more recently in Asia. Our results suggest that correlation analyses of allele frequencies and malaria endemicity may be useful for identifying candidate functional variants that play a role in malaria resistance and susceptibility.
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