TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus: A Genotype-Phenotype Correlation Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 90
- 试验地点
- 1
- 主要终点
- Systemic Lupus Erythematosus Assessment
研究概览
简要总结
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by diverse clinical manifestations, prominently involving the skin.
详细描述
Cutaneous lesions are among the earliest and most frequent features of SLE, with over 70% of patients developing mucocutaneous involvement during their disease course.
The presence and severity of cutaneous manifestations have been associated with specific autoantibodies, such as anti-Ro/SSA and anti-dsDNA, which may reflect underlying genetic susceptibility.
Recent studies have also implicated gene polymorphisms in IRF5, STAT4, TREX1, and TNFA in the pathogenesis of cutaneous SLE phenotypes.
Defective TREX1 exonuclease activity, leading to intracellular accumulation of DNA, may trigger type I interferon activation-a key mechanism in lupus pathophysiology.
Despite the extensive global literature, data from Egyptian patients remain limited, especially regarding the relationship between TREX1 gene variants and cutaneous lupus phenotypes.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 60 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Adult aged 18-60 years
- •Diagnosed as SLE per 2019 EULAR/ACR classification criteria.
- •Presence of at least one cutaneous manifestation (acute, subacute, or chronic).
- •Willing to provide written informed consent for participation and genetic testing
排除标准
- •Overlap autoimmune syndromes (e.g., dermatomyositis, systemic sclerosis).
- •Systemic infection, malignancy, or pregnancy.
- •Use of biologic therapy or immunosuppressive pulses within one month.
研究组 & 干预措施
Group A : (Systemic Lupus Erythrematosus)
About 60 patients ) diagnosed with SLE based on 2019 EULAR/ACR criteria, each with at least one cutaneous manifestation.
干预措施: TREX1 gene polymorphisms (Diagnostic Test)
Group B (Healthy Controls)
30 age- and sex-matched healthy controls with no personal or family history of autoimmune disease and negative ANA and anti-dsDNA.
干预措施: TREX1 gene polymorphisms (Diagnostic Test)
结局指标
主要结局
Systemic Lupus Erythematosus Assessment
时间窗: 3 Months
Assessment of disease activity in Systemic Lupus Erythematosus (SLE) using Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K). SLEDAI-2K as follows : 1-5 is Mild disease activity 6-10 is Moderate disease activity 11 or more is Severe disease activity
TREX1 gene polymorphism and SLE
时间窗: 3 Months
Assessment the association between TREX1 gene polymorphism and systemic lupus erythematosus susceptibility
次要结局
未报告次要终点
研究者
Amira Rabea AbuElfadl
Resident at Dermatology , venereology and andrology, Faculty of medicine
South Valley University