Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.
ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Expert Rev Anti Infect Ther. 2022 Jul;20(7):987-996. doi: 10.1080/14787210.2022.2063839. Epub 2022 Apr 13.
Fungal infections represent a global public health problem that affects millions of people. Despite remarkable advances achieved over the last decades, available diagnostic and therapeutic tools remain insufficient for the optimal management of these diseases. The clinical course of fungal infection is highly variable, and evidence accumulated from patients with rare mutations and cohort-based studies suggests that the trajectory of disease is largely defined by patient genetics and its impact on immune responses. Therefore, there is an urgent need to elucidate the precise mechanisms by which genetic variants influence the risk, progression, and outcome of fungal infection.
In this review, we highlight recent advances in our understanding of the genetic factors that influence antifungal immune responses based on candidate gene studies and genome-wide approaches performed in different experimental and clinical models.
Research on genetics of susceptibility to infection is expected to lead to a detailed knowledge framework for the pathogenesis of human fungal infections and unveil novel targets and pathways amenable to clinical intervention.
真菌感染是一个全球性的公共卫生问题，影响着数百万人。尽管在过去几十年中取得了显著进展，但现有的诊断和治疗工具仍然不足以对这些疾病进行最佳管理。真菌感染的临床病程变化很大，从罕见突变患者和基于队列的研究中积累的证据表明，疾病的进程在很大程度上取决于患者的遗传因素及其对免疫反应的影响。因此，迫切需要阐明遗传变异影响真菌感染风险、进展和结果的确切机制。
在这篇综述中，我们根据在不同实验和临床模型中进行的候选基因研究和全基因组方法，强调了我们对影响抗真菌免疫反应的遗传因素的最新理解。
对易感性遗传的研究有望为人类真菌感染的发病机制提供详细的知识框架，并揭示新的可临床干预的靶点和途径。
