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赋予疟疾抗性的人类基因变异。

Human genetic variations conferring resistance to malaria.

作者信息

Zhang Xiaokun, Wu Jie, Peng Yunxing, Luo Lan, Zhang Lu, Huang Xi, Chen Guoying, Li Yirong, Yi Haoan

机构信息

Functional Laboratory of Experimental Teaching Center, Faculty of Basic Medical Science, Kunming Medical University, Kunming, 650500, Yunnan, People's Republic of China.

Emergency Medicine Department of First Affiliated Hospital of Kunming Medical University, Kunming, 650500, Yunnan, People's Republic of China.

出版信息

J Transl Med. 2025 Sep 24;23(1):997. doi: 10.1186/s12967-025-07017-w.

Abstract

Malaria remains one of the most significant public health challenges globally, particularly in tropical and subtropical regions. Throughout evolutionary history, malaria-induced natural selection has profoundly influenced human genetic evolution, leading to the emergence of numerous genetic variations that confer resistance to the disease. These adaptations highlight the complicated interplay between pathogens and human genetics. This review focuses on key genetic variations associated with malaria resistance, including hemoglobinopathies (such as sickle cell trait and thalassemia), glucose-6-phosphate dehydrogenase deficiency, blood group polymorphisms and genetic variants related to inflammation and immune regulation. The prevalence of these genetic adaptations varies widely across different geographic regions, reflecting the historical burden of malaria in those areas. Despite significant advancements in genetic research, the precise mechanisms by which these mutations confer protection against malaria remain incompletely understood. Furthermore, the interactions between these genetic factors and environmental influences add to another layer of complexity. A comprehensive understanding of these genetic variations and their functional implications is crucial for advancing malaria epidemiology, improving diagnostic tools, and developing targeted prevention and control strategies, ultimately contributing to global efforts to eradicate malaria.

摘要

疟疾仍然是全球最重大的公共卫生挑战之一,在热带和亚热带地区尤为如此。在整个进化历史中,疟疾引发的自然选择对人类基因进化产生了深远影响,导致出现了众多赋予疟疾抗性的基因变异。这些适应性变化凸显了病原体与人类遗传学之间复杂的相互作用。本综述聚焦于与疟疾抗性相关的关键基因变异,包括血红蛋白病(如镰状细胞性状和地中海贫血)、葡萄糖 -6-磷酸脱氢酶缺乏症、血型多态性以及与炎症和免疫调节相关的基因变异。这些基因适应性变化在不同地理区域的流行程度差异很大,反映了这些地区疟疾的历史负担。尽管基因研究取得了重大进展,但这些突变赋予疟疾防护的精确机制仍未完全明了。此外,这些基因因素与环境影响之间的相互作用又增加了另一层复杂性。全面了解这些基因变异及其功能意义对于推进疟疾流行病学、改进诊断工具以及制定针对性的预防和控制策略至关重要,最终有助于全球消除疟疾的努力。

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