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Lack of Association of CD55 Receptor Genetic Variants and Severe Malaria in Ghanaian Children

机译:加纳儿童缺乏CD55受体遗传变异与严重疟疾的关联

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摘要

In a recent report, the cellular receptor CD55 was identified as a molecule essential for the invasion of human erythrocytes by Plasmodium falciparum, the causal agent of the most severe form of malaria. As this invasion process represents a critical step during infection with the parasite, it was hypothesized that genetic variants in the gene could affect severe malaria (SM) susceptibility. We performed high-resolution variant discovery of rare and common genetic variants in the human CD55 gene. Association testing of these variants in over 1700 SM cases and unaffected control individuals from the malaria-endemic Ashanti Region in Ghana, West Africa, were performed on the basis of single variants, combined rare variant analyses, and reconstructed haplotypes. A total of 26 genetic variants were detected in coding and regulatory regions of CD55. Five variants were previously unknown. None of the single variants, rare variants, or haplotypes showed evidence for association with SM or P. falciparum density. Here, we present the first comprehensive analysis of variation in the CD55 gene in the context of SM and show that genetic variants present in a Ghanaian study group appear not to influence susceptibility to the disease.
机译:在最近的一份报告中,细胞受体CD55被鉴定为恶性疟原虫(最严重形式的疟疾的病原体)入侵人红细胞所必需的分子。由于这种入侵过程是寄生虫感染过程中的关键步骤,因此假设该基因的遗传变异可能会影响严重的疟疾(SM)易感性。我们在人类CD55基因中进行了罕见和常见遗传变异的高分辨率变异发现。在单个变体,组合罕见变体分析和重建单倍型的基础上,对来自西非加纳的1700多例SM病例和未患疟疾的Ashanti地区未受影响的对照个体进行了关联测试。在CD55的编码区和调控区中共检测到26种遗传变异。五个变种以前是未知的。单个变体,罕见变体或单倍型均未显示与SM或恶性疟原虫密度相关的证据。在这里,我们提出了SM背景下CD55基因变异的第一个综合分析,并表明加纳研究组中存在的遗传变异似乎不影响该疾病的易感性。

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