Genetic polymorphisms linked to susceptibility to malaria.
Genetic polymorphisms linked to susceptibility to malaria.
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DOI：
10.1186/1475-2875-10-271
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发表时间：
2011-09-19
期刊：
影响因子：
3
通讯作者：
Stiles JK
中科院分区：
文献类型：
--
作者：
Driss A;Hibbert JM;Wilson NO;Iqbal SA;Adamkiewicz TV;Stiles JK
宿主遗传学对恶性疟原虫疟疾易感性的影响在过去的二十年中得到了广泛的研究。现在很明显，疟疾寄生虫对流行地区的人类基因组施加了强大的选择力。已经鉴定出与不同疟疾相关表型相关的不同基因。导致疟疾严重的因素包括寄生虫病、寄生虫引起的炎症、贫血和脑微血管中寄生虫红细胞的隔离。人类基因组研究技术的最新进展，如全基因组关联研究（GWAS）和精细基因分型工具，已经发现了几种遗传多态性和生物标志物，值得进一步研究宿主-寄生虫相互作用。这篇综述描述和讨论了人类基因多态性，迄今已被证明与恶性疟原虫疟疾的易感性或抗性。虽然一些多态性在疟疾易感性中起重要作用，但一些研究结果是不确定的和矛盾的，必须谨慎考虑。发现与不同疟疾表型相关的遗传标记将有助于阐明疟疾的病理生理学，并能够开发干预措施或治疗方法。人口的多样性以及环境影响会影响疟疾的临床异质性，从而促进进一步研究，以开发新的干预措施、疗法和更好的疟疾管理。
The influence of host genetics on susceptibility to Plasmodium falciparum malaria has been extensively studied over the past twenty years. It is now clear that malaria parasites have imposed strong selective forces on the human genome in endemic regions. Different genes have been identified that are associated with different malaria related phenotypes. Factors that promote severity of malaria include parasitaemia, parasite induced inflammation, anaemia and sequestration of parasitized erythrocytes in brain microvasculature. Recent advances in human genome research technologies such as genome-wide association studies (GWAS) and fine genotyping tools have enabled the discovery of several genetic polymorphisms and biomarkers that warrant further study in host-parasite interactions. This review describes and discusses human gene polymorphisms identified thus far that have been shown to be associated with susceptibility or resistance to P. falciparum malaria. Although some polymorphisms play significant roles in susceptibility to malaria, several findings are inconclusive and contradictory and must be considered with caution. The discovery of genetic markers associated with different malaria phenotypes will help elucidate the pathophysiology of malaria and enable development of interventions or cures. Diversity in human populations as well as environmental effects can influence the clinical heterogeneity of malaria, thus warranting further investigations with a goal of developing new interventions, therapies and better management against malaria.
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