人工关节周围感染宿主易感性的基因组学见解:一项综合文献综述。
Genomic Insights into Host Susceptibility to Periprosthetic Joint Infections: A Comprehensive Literature Review.
作者信息
Lizcano Juan D, Visperas Anabelle, Piuzzi Nicolas S, Abdelbary Hesham, Higuera-Rueda Carlos A
机构信息
Orthopedic Surgery Department, Cleveland Clinic, Weston, FL 33331, USA.
Orthopedic Surgery Department, Cleveland Clinic, Cleveland, OH 44195, USA.
出版信息
Microorganisms. 2024 Dec 3;12(12):2486. doi: 10.3390/microorganisms12122486.
Periprosthetic joint infection (PJI) is a multifactorial disease, and the risk of contracting infection is determined by the complex interplays between environmental and host-related factors. While research has shown that certain individuals may have a genetic predisposition for PJI, the existing literature is scarce, and the heterogeneity in the assessed genes limits its clinical applicability. Our review on genetic susceptibility for PJI has the following two objectives: (1) Explore the potential risk of developing PJI based on specific genetic polymorphisms or allelic variations; and (2) Characterize the regulatory cascades involved in the risk of developing PJI. This review focused on clinical studies investigating the association between genetic mutations or variations with the development of PJI. The genes investigated in these studies included toll-like receptors and humoral pattern recognition molecules, cytokines, chemokines, mannose-binding lectin (MBL), bone metabolism molecules, and human leukocyte antigen. Among these genes, polymorphisms in IL-1, MBL, vitamin D receptors, HLA-C, and HLA-DQ might have a relevant impact on the development of PJI. The literature surrounding this topic is limited, but emerging transcriptomic and genome-wide association studies hold promise for identifying at-risk genes. This advancement could pave the way for incorporating genetic testing into preoperative risk stratification, enhancing personalized patient care.
人工关节周围感染(PJI)是一种多因素疾病,感染风险由环境因素和宿主相关因素之间的复杂相互作用决定。虽然研究表明某些个体可能具有PJI的遗传易感性,但现有文献稀少,且所评估基因的异质性限制了其临床适用性。我们对PJI遗传易感性的综述有以下两个目标:(1)基于特定的基因多态性或等位基因变异探索发生PJI的潜在风险;(2)描述与发生PJI风险相关的调控级联反应。本综述聚焦于调查基因突变或变异与PJI发生之间关联的临床研究。这些研究中所调查的基因包括Toll样受体和体液模式识别分子、细胞因子、趋化因子、甘露糖结合凝集素(MBL)、骨代谢分子以及人类白细胞抗原。在这些基因中,白细胞介素-1、MBL、维生素D受体、HLA - C和HLA - DQ的多态性可能对PJI的发生有相关影响。围绕该主题的文献有限,但新兴的转录组学和全基因组关联研究有望识别出风险基因。这一进展可为将基因检测纳入术前风险分层、加强个性化患者护理铺平道路。