Clinical trial NCT05314881: NCF Gene & TNFSF4 in SLE Patients
Official title: Polymorphisms of the Tumor Necrosis Factor Superfamily 4 and Neutrophil Cytosolic Factor Gene in SLE Egyptian Patients.
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: System; Lupus Erythematosus
Keywords: TNFS4, NCF gene
Lead sponsor: Assiut University
Sponsor class: OTHER
First posted: 2022-04-06
Enrollment: 65
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: BASIC_SCIENCE

Brief summary: the investigators objective is to identify the association of SNP polymorphisms in the TNFS4, and NCF gene and SLE Egyptian patients.

Detailed description: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by clinical heterogeneity with variable severity. Among the SLE patients, two may share the same clinical manifestations but have different phenotypes.

This is why studies are searching for the different genes that might be associated with SLE susceptibility.

The Neutrophil cytosolic factor (NCF) Gene provide the instruction for the synthesis of group of proteins that form the NADPH oxidase enzyme complex, that is critical for the induction of reactive oxygen species (ROS) which in turn is important in the regulation of immune system.

While the Tumor necrosis factor superfamily 4 (TNFSF4) encodes the ligand for OX40 (OX40L), which delivers a strong costimulatory signal to activated effector T-cells and enhances both Th1 and Th2 responses when engaged with its receptor. Therefore, increased levels of cell surface OX40L may augment B cell differentiation and proliferation. The consequence of which is that the resulting autoantibodies and immune complexes cause disease pathology in SLE.

So, NCF and TNFSF4 gene polymorphism are supposed to be associated with SLE risk and pathophysiology.

Eligibility criteria: Inclusion Criteria:

* SLE patients
* patients older than 18 years old

Exclusion Criteria:

* patients with other connective tissue diseases
* patients older than 70 years old

Primary outcomes:
measure: Concentration of gene polymorphism of the TNFS4 & NCF in SLE Egyptian patients.
timeFrame: 3 months
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
References:
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citation: Croft M. The role of TNF superfamily members in T-cell function and diseases. Nat Rev Immunol. 2009 Apr;9(4):271-85. doi: 10.1038/nri2526.
citation: Stuber E, Neurath M, Calderhead D, Fell HP, Strober W. Cross-linking of OX40 ligand, a member of the TNF/NGF cytokine family, induces proliferation and differentiation in murine splenic B cells. Immunity. 1995 May;2(5):507-21. doi: 10.1016/1074-7613(95)90031-4.
citation: Olsson LM, Johansson AC, Gullstrand B, Jonsen A, Saevarsdottir S, Ronnblom L, Leonard D, Wettero J, Sjowall C, Svenungsson E, Gunnarsson I, Bengtsson AA, Holmdahl R. A single nucleotide polymorphism in the NCF1 gene leading to reduced oxidative burst is associated with systemic lupus erythematosus. Ann Rheum Dis. 2017 Sep;76(9):1607-1613. doi: 10.1136/annrheumdis-2017-211287. Epub 2017 Jun 12.