关键词: 系统性红斑狼疮,非编码变异,情境依赖性,细胞类型依赖性,免疫与疾病状态依赖性,表达数量性状位点

Abstract:

Systemic lupus erythematosus (SLE) is a complex autoimmune disease whose genetic susceptibility is closely associated with non-coding variants. However, the functional effects of these variants are highly context-dependent, whereby the same variant may exert different effects across cell types, between the resting and activated states of immune cells, and under different disease conditions. Some regulatory effects may become evident only in response to specific inflammatory stimuli or during active disease. This review systematically summarizes recent advances in the context-dependent regulation of non-coding variants in SLE. Particular emphasis is placed on cell type dependence, immune and disease state dependence, as well as the major strategies used to investigate these context-dependent effects. By integrating current evidence, this review aims to advance our understanding of the genetic basis of clinical heterogeneity in SLE and to provide a theoretical framework for disease risk prediction, patient stratification, and targeted therapy.

Key words:

systemic lupus erythematosus, non-coding variants, context-dependent regulation, cell type dependence, immune and disease state dependence, expression quantitative trait locus