Centre for Malaria and Tropical Diseases, Instituto de Higiene e Medicina Tropical, Universidade Nova de Lisboa, Rua da Junqueira, 100, 1349-008 Lisbon, Portugal.
Blood Cells Mol Dis. 2010 Jan 15;44(1):62-8. doi: 10.1016/j.bcmd.2009.09.008. Epub 2009 Oct 17.
Malaria has occurred in the Cabo Verde archipelago with epidemic characteristics since its colonization. Nowadays, it occurs in Santiago Island alone and though prophylaxis is not recommended by the World Health Organization, studies have highlight the prospect of malaria becoming a serious public health problem as a result of the presence of antimalarial drug resistance associated with mutations in the parasite populations and underscore the need for tighter surveillance. Despite the presumptive weak immune status of the population, severe symptoms of malaria are not observed and many people present a subclinical course of the disease. No data on the prevalence of sickle-cell trait and red cell glucose-6-phosphate dehydrogenase deficiency (two classical genetic factors associated with resistance to severe malaria) were available for the Cabo Verde archipelago and, therefore, we studied the low morbidity from malaria in relation to the particular genetic characteristics of the human host population. We also included the analysis of the pyruvate kinase deficiency associated gene, reported as putatively associated with resistance to the disease. Allelic frequencies of the polymorphisms examined are closer to European than to African populations and no malaria selection signatures were found. No association was found between the analyzed human factors and infection but one result is of high interest: a linkage disequilibrium test revealed an association of distant loci in the PKLR gene and adjacent regions, only in non-infected individuals. This could mean a more conserved gene region selected in association to protection against the infection and/or the disease.
自殖民时期以来，佛得角群岛就一直存在具有流行特征的疟疾。如今，仅在圣地亚哥岛发生这种疾病。虽然世界卫生组织不建议进行预防，但研究强调了由于寄生虫种群中抗疟药物耐药性相关突变，疟疾可能成为严重公共卫生问题的前景，并强调需要加强监测。尽管人们的免疫状态可能较弱，但并未观察到疟疾的严重症状，许多人患有亚临床疾病。佛得角群岛没有镰状细胞特征和红细胞葡萄糖-6-磷酸脱氢酶缺乏症（与严重疟疾耐药性相关的两个经典遗传因素）的流行数据，因此，我们研究了与人类宿主人群特定遗传特征相关的低疟疾发病率。我们还分析了与疾病耐药性相关的丙酮酸激酶缺乏症相关基因。研究中检查的多态性等位基因频率更接近欧洲人群，而不是非洲人群，并且没有发现疟疾选择特征。在分析的人类因素与感染之间未发现关联，但有一个结果非常有趣：连锁不平衡测试显示，PKLR 基因和邻近区域的远程基因座之间存在关联，仅在未感染个体中存在。这可能意味着与保护免受感染和/或疾病相关的基因区域更保守。
