The Role of Single-Nucleotide Polymorphisms in Acquired Aplastic Anaemia.

Acquired aplastic anaemia (AA) is a heterogeneous disease characterized by bone marrow haematopoietic failure, and its pathogenesis is multifactorial, involving immune dysregulation, genetic susceptibility and environmental factors. Single-nucleotide polymorphisms (SNPs) are common single-base genomic variants that are frequent, stable and readily detectable, making them useful markers for studying genetic susceptibility to disease. Specific SNPs may contribute to immune abnormalities, bone marrow microenvironmental imbalance and dysfunction of haematopoietic stem and progenitor cells (HSPCs) in AA by regulating gene expression and influencing molecular functions. In this review, we systematically summarize the association between SNPs in key genes and the susceptibility, severity, treatment response and prognosis of AA, aiming to provide new insights into early risk prediction, disease management and potential gene-based intervention strategies for AA.