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Human genetic variant E756del in the ion channel PIEZO1 not associated with protection from severe malaria in a large Ghanaian study
Journal of Human Genetics ( IF 3.5 ) Pub Date : 2021-07-07 , DOI: 10.1038/s10038-021-00958-2
Thorsten Thye 1 , Jennifer A Evans 2, 3 , Gerd Ruge 1 , Wibke Loag 1 , Daniel Ansong 3 , Tsiri Agbenyega 4 , Rolf D Horstmann 2 , Jürgen May 1, 5 , Kathrin Schuldt 1
Affiliation  

Recently, a common genetic variant E756del in the human gene PIEZO1 was associated with protection from severe malaria. Here, we performed a genetic association study of this gain-of-function variant in a large case-control study including 4149 children from the Ashanti Region in Ghana, West Africa. The statistical analysis did not indicate an association with protection from severe malaria and, thus, providing evidence against a strong protective effect of the PIEZO1 E756del variant on severe malaria susceptibility.



中文翻译:

在加纳的一项大型研究中,离子通道 PIEZO1 中的人类基因变异 E756del 与预防严重疟疾无关

最近,人类基因PIEZO1中的一种常见遗传变异 E756del 与预防严重疟疾有关。在这里,我们在一项包括来自西非加纳阿散蒂地区的 4149 名儿童的大型病例对照研究中对这种功能获得性变异进行了遗传关联研究。统计分析未表明与预防严重疟疾有关,因此,提供证据证明PIEZO1 E756del 变体对严重疟疾易感性具有强保护作用。

更新日期:2021-07-07
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