G-四链体 (G4) 是在核酸（DNA 和 RNA）富含鸟嘌呤的区域中形成的二级结构。 G4 在基因组调控区域显着富集，与端粒稳态、基因组不稳定性、转录和翻译等重要生物过程相关。重要的是，G4 与健康和疾病有关，例如癌症、神经系统疾病以及病毒和微生物病原体感染。越来越多的证据表明 G4 在设计新的诊断和治疗策略方面具有潜力，尽管体内研究仍处于早期阶段。这篇综述提供了描述 G4 对人类疾病影响的文献的最新摘要以及基于 G4 靶向治疗的不同方法在G4领域，大多数研究都是在体外以描述性方式进行的。因此，在生物学背景下对 G4 的详细机制理解仍有待破译。在临床上，由于 G4 配体的选择性低和类药特性差，G4 作为治疗靶点的使用受到阻碍。未来对 G4 的研究可能会克服当前方法和干预方面的限制，并揭示这些独特的结构元素在疾病发病机制和治疗中的作用。

G-quadruplexes (G4s) are secondary structures formed in guanine-rich regions of nucleic acids (both DNA and RNA). G4s are significantly enriched at regulatory genomic regions and are associated with important biological processes ranging from telomere homeostasis and genome instability to transcription and translation. Importantly, G4s are related to health and diseases such as cancer, neurological diseases, as well as infections with viruses and microbial pathogens. Increasing evidence suggests the potential of G4s for designing new diagnostic and therapeutic strategies although in vivo studies are still at early stages.This review provides an updated summary of the literature describing the impact of G4s in human diseases and different approaches based on G4 targeting in therapy.Within the G4 field, most of the studies have been performed in vitro and in a descriptive manner. Therefore, detailed mechanistic understanding of G4s in the biological context remains to be deciphered. In clinics, the use of G4s as therapeutic targets has been hindered due to the low selectivity profile and poor drug-like properties of G4 ligands. Future research on G4s may overcome current methodological and interventional limitations and shed light on these unique structural elements in the pathogenesis and treatment of diseases.