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Cytotoxic T Lymphocyte Antigen 4 Gene +49 A/G (rs231775) Polymorphism and Susceptibility to Systemic Lupus Erythematosus

[ Vol. 17 , Issue. 2 ]

Author(s):

Rania Mohammed Kishk, Maii Abdelraheem Abdellatif, Raghda Elsawi Eldesouki*, Mohamed Fawzy, Shaymaa Abdelraheem Abdelhady and Marwa Mohamed Fouad   Pages 247 - 251 ( 5 )

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.

Keywords:

Systemic lupus polymorphisms, CTLA-4, SNP genotyping, (rs231775), (+49 A/G), PCR.

Affiliation:

Microbiology and Immunology Department, Faculty of Medicine, Suez Canal University, Ismailia, Physical Medicine, Rheumatology & Rehabilitation Department, Faculty of Medicine, Suez Canal University, Ismailia, Genetics Unit, Histology Department, Faculty of Medicine, Suez Canal University, Ismailia, Internal Medicine Department, Faculty of Medicine, Suez Canal University, Ismailia, Clinical Pathology Department, Faculty of Medicine, Suez Canal University, Ismailia, Microbiology and Immunology Department, Faculty of Medicine, Suez Canal University, Ismailia



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