Title:Cytotoxic T Lymphocyte Antigen 4 Gene +49 A/G (rs231775) Polymorphism and Susceptibility to Systemic Lupus Erythematosus
Volume: 17
Issue: 2
Author(s): Rania Mohammed Kishk, Maii Abdelraheem Abdellatif, Raghda Elsawi Eldesouki*, Mohamed Fawzy, Shaymaa Abdelraheem Abdelhady and Marwa Mohamed Fouad
Affiliation:
- Genetics Unit, Histology Department, Faculty of Medicine, Suez Canal University, Ismailia,Egypt
Keywords:
Systemic lupus polymorphisms, CTLA-4, SNP genotyping, (rs231775), (+49 A/G), PCR.
Abstract: Aim: To assess the probable role of +49AG polymorphism in susceptibility to SLE in an
Egyptian population.
Background: Systemic lupus erythematosus (SLE) is a compound inflammatory chronic disease
distinguished through the release of autoantibodies. Cytotoxic T lymphocyte associated antigen-4
is a main down controller of T-cell response; its dysregulation could affect SLE pathogenesis by altered
T cells activation to self-antigens.
Objectives: To evaluate the CTLA-4 +49AG allelic and genotype frequency in a sample of the
Egyptian population and correlate them with disease susceptibility and clinical severity.
Materials and methods: Including 100 patients with SLE and 100 healthy controls (age and gender
matched), CTLA-4 exon 1 49 A>G Genotyping was done using Real-Time PCR.
Results: No difference was noticed in genotype or allele distributions of the studied polymorphism
between both groups. Similar genotypes and allele frequencies were established for the 2 groups after
their stratification by the age of disease onset, clinical course, or severity.
Conclusion: CTLA-4 +49AG gene polymorphism is not linked with the liability to develop SLE in
the studied Egyptian population. Yet it is significantly related to disease severity.
