Facultad de Ingeniería y Ciencias Aplicadas, Universidad de Las Américas, Quito, Ecuador.
Cancer Research Group (CRG), Faculty of Medicine, Universidad de Las Américas, Quito, Ecuador.
Malar J. 2023 Sep 26;22(1):283. doi: 10.1186/s12936-023-04716-x.
Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is an X-linked disorder affecting over 400 million people worldwide. Individuals with molecular variants associated with reduced enzymatic activity are susceptible to oxidative stress in red blood cells, thereby increasing the risk of pathophysiological conditions and toxicity to anti-malarial treatments. Globally, the prevalence of G6PDd varies among populations. Accordingly, this study aims to characterize G6PDd distribution within the Ecuadorian population and to describe the spatial distribution of reported malaria cases.
Molecular variants associated with G6PDd were genotyped in 581 individuals from Afro-Ecuadorian, Indigenous, Mestizo, and Montubio ethnic groups. Additionally, spatial analysis was conducted to identify significant malaria clusters with high incidence rates across Ecuador, using data collected from 2010 to 2021.
The A- c.202G > A and A- c.968T > C variants underpin the genetic basis of G6PDd in the studied population. The overall prevalence of G6PDd was 4.6% in the entire population. However, this frequency increased to 19.2% among Afro-Ecuadorian people. Spatial analysis revealed 12 malaria clusters, primarily located in the north of the country and its Amazon region, with relative risks of infection of 2.02 to 87.88.
The findings of this study hold significant implications for public health interventions, treatment strategies, and targeted efforts to mitigate the burden of malaria in Ecuador. The high prevalence of G6PDd among Afro-Ecuadorian groups in the northern endemic areas necessitates the development of comprehensive malaria eradication strategies tailored to this geographical region.
葡萄糖-6-磷酸脱氢酶缺乏症（G6PDd）是一种影响全球超过 4 亿人的 X 连锁疾病。具有与酶活性降低相关的分子变异的个体易受到红细胞的氧化应激，从而增加了发生病理生理状况和对抗疟治疗产生毒性的风险。在全球范围内，G6PDd 的流行率在不同人群中存在差异。因此，本研究旨在描述厄瓜多尔人群中 G6PDd 的分布情况，并描述报告疟疾病例的空间分布。
对来自非裔厄瓜多尔人、土著人、梅斯蒂索人和蒙图比奥人等族群的 581 个人进行了与 G6PDd 相关的分子变异的基因分型。此外，利用 2010 年至 2021 年收集的数据，进行了空间分析，以确定厄瓜多尔各地疟疾发病率高的显著疟疾集群。
在所研究的人群中，A-c.202G > A 和 A-c.968T > C 变异是 G6PDd 的遗传基础。整个人群的 G6PDd 总患病率为 4.6%。然而，在非裔厄瓜多尔人中，这一频率增加到 19.2%。空间分析显示有 12 个疟疾集群，主要位于该国北部和亚马逊地区，感染的相对风险为 2.02 至 87.88。
本研究的结果对厄瓜多尔的公共卫生干预措施、治疗策略和有针对性的减少疟疾负担的努力具有重要意义。在北部流行地区的非裔厄瓜多尔群体中 G6PDd 的高患病率需要制定针对这一地理区域的全面疟疾消除战略。
