Saleh A Alghamdi1, Shahad W Kattan2, Eman A Toraih3, Majed G Alrowaili4, Manal S Fawzy5, Rami M Elshazli6. 1. Medical Genetics, Clinical Laboratory Department, College of Applied Medical Sciences, Taif University, Taif, Saudi Arabia. Electronic address: G.saleh@tu.edu.sa. 2. Department of Medical Laboratory, College of Applied Medical Sciences, Taibah University, Yanbu, Saudi Arabia. 3. Department of Surgery, Tulane University, School of Medicine, New Orleans, LA, USA; Genetics Unit, Histology and Cell Biology Department, Faculty of Medicine, Suez Canal University, Egypt. 4. Department of Surgery (Orthopedic Division), Faculty of Medicine, Northern Border University, Arar, Saudi Arabia. 5. Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt; Department of Biochemistry, Faculty of Medicine, Northern Border University, Arar, Saudi Arabia. 6. Biochemistry and Molecular Genetics Unit, Department of Basic Sciences, Faculty of Physical Therapy, Horus University - Egypt, New Damietta 34518, Egypt. Electronic address: Relshazly@horus.edu.eg.
Abstract
BACKGROUND: The AIRE (rs2075876) and CTLA4 (rs231775) variants have a crucial function in controlling the negative selection and suppression of T lymphocytes. Numerous reports studied the association of AIRE and CTLA4 variants with different autoimmune disorders, but with inconclusive conclusions. The main purpose of this work is to evaluate the association of these two variants with SLE susceptibility among Egyptian patients. SUBJECTS AND METHODS: A total of 247 participants (100 SLE patients and 147 healthy controls) were enrolled in this case-controlled study. The genomic DNA of these dual variants was genotyped using the TaqMan genotyping method. RESULTS: The AIRE (rs2075876) variant conferred protection against developing SLE disease under allelic [A allele vs. G allele; OR = 0.16, 95%CI = 0.09-0.28], and dominant [GA + AA vs. GG; OR = 0.14, 95%CI = 0.05-0.34] models. Moreover, patients with AIRE rs2075876 (A/A) genotype revealed a statistically significant with lower levels of complement 3 (p-value = 0.007). Nonetheless, the CTLA4 (rs231775) variant was not associated with increased risk of SLE under all genetic association models (p-value > 0.05). However, CTLA4 rs231775 (G/G) genotype observed significant difference with recurrent infection and hematuria. CONCLUSIONS: Our findings indicated that the AIRE (rs2075876) variant conferred protection against developing SLE disease, but not the CTLA4 (rs231775) variant.
BACKGROUND: The AIRE (rs2075876) and CTLA4 (rs231775) variants have a crucial function in controlling the negative selection and suppression of T lymphocytes. Numerous reports studied the association of AIRE and CTLA4 variants with different autoimmune disorders, but with inconclusive conclusions. The main purpose of this work is to evaluate the association of these two variants with SLE susceptibility among Egyptian patients. SUBJECTS AND METHODS: A total of 247 participants (100 SLEpatients and 147 healthy controls) were enrolled in this case-controlled study. The genomic DNA of these dual variants was genotyped using the TaqMan genotyping method. RESULTS: The AIRE (rs2075876) variant conferred protection against developing SLE disease under allelic [A allele vs. G allele; OR = 0.16, 95%CI = 0.09-0.28], and dominant [GA + AA vs. GG; OR = 0.14, 95%CI = 0.05-0.34] models. Moreover, patients with AIRErs2075876 (A/A) genotype revealed a statistically significant with lower levels of complement 3 (p-value = 0.007). Nonetheless, the CTLA4 (rs231775) variant was not associated with increased risk of SLE under all genetic association models (p-value > 0.05). However, CTLA4rs231775 (G/G) genotype observed significant difference with recurrent infection and hematuria. CONCLUSIONS: Our findings indicated that the AIRE (rs2075876) variant conferred protection against developing SLE disease, but not the CTLA4 (rs231775) variant.
Authors: Magdy M Youssef; Afaf M Elsaid; Rasha A El-Saeed; Riyadh T Mukhlif; Hisham Megahed; Adel I Al-Alawy; Rami M Elshazli Journal: Biochem Genet Date: 2021-05-03 Impact factor: 1.890
Authors: Doaa Hs Attia; Dalia Ah Dorgham; Ahmed A El Maghraby; Marwa Alkaffas; Mahitab A Abdel Kawy; Mai M Sherif; Radwa M Abdel Halim Journal: Int J Rheumatol Date: 2021-09-28