Mahdieh Shojaa1,2, Mehrdad Aghaie3, Mahsa Amoli4, Naemeh Javid1, Fatemeh Shakeri1, Patricia Khashayar2, Alijan Tabarraei1, Abbas A Keshtkar2, Hamid R Joshaghani1, Arghavan Kouroshnia4, Mostafa Qorbani5,6, Faranak Mahmoudi7, Ramin Mohebbi8, Neda Ranjbarpour7. 1. Golestan University of Medical Sciences, Gorgan, Iran. 2. Osteoporosis Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran. 3. Department of Rheumatology, Faculty of Medicine, Bone Joint and Connective Tissue Research Center (BJCRC), Golestan University of Medical Sciences, Gorgan, Iran. 4. Endocrinology & Metabolism Research Center (EMRC), Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran. 5. Department of Public Health, Alborz University of Medical Sciences, Karaj, Iran. 6. Non-communicable Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran. 7. Genetics Department, Islamic Azad University Tehran, Tehran Medical Branch, Tehran, Iran. 8. Medical School, Shahed University of Medical Sciences, Tehran, Iran.
Abstract
BACKGROUND: Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) is an important negative regulator of T-cell response. It is a functional candidate gene connected with susceptibility to systemic lupus erythematosus (SLE). We analyzed the role of -318C/T polymorphism in the promoter region of the CTLA-4 gene in Iranian patients suffering from SLE. METHODS: A total of 180 SLE patients and 304 healthy ethnically matched controls were enrolled in the study. DNA was extracted from blood samples according to the standard procedure. Polymerase chain reaction restriction fragments length polymorphism (PCR-RFLP) was used to analyze the genotype and allele frequencies of these polymorphisms. RESULTS: The CC genotype was observed in 170 (94.5%) of the SLE patients, which was significantly different compared to the controls (251 [82.4%]; P = 0.0001, OR = 3.51 95%CI = 1.77-7.53). T allele was significantly more common in the controls (9.2%) compared to SLE patients 2.8% (P = 0.0001, OR = 0.26, 95%CI = 0.13-0.53). There was no significant correlation between different genotypes and age, gender or family history of SLE in the studied population. CONCLUSION: It can be concluded that -318C/T polymorphism of CTLA-4 gene might play a significant role in the development of SLE in the Iranian patients.
BACKGROUND:Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) is an important negative regulator of T-cell response. It is a functional candidate gene connected with susceptibility to systemic lupus erythematosus (SLE). We analyzed the role of -318C/T polymorphism in the promoter region of the CTLA-4 gene in Iranian patients suffering from SLE. METHODS: A total of 180 SLEpatients and 304 healthy ethnically matched controls were enrolled in the study. DNA was extracted from blood samples according to the standard procedure. Polymerase chain reaction restriction fragments length polymorphism (PCR-RFLP) was used to analyze the genotype and allele frequencies of these polymorphisms. RESULTS: The CC genotype was observed in 170 (94.5%) of the SLEpatients, which was significantly different compared to the controls (251 [82.4%]; P = 0.0001, OR = 3.51 95%CI = 1.77-7.53). T allele was significantly more common in the controls (9.2%) compared to SLEpatients 2.8% (P = 0.0001, OR = 0.26, 95%CI = 0.13-0.53). There was no significant correlation between different genotypes and age, gender or family history of SLE in the studied population. CONCLUSION: It can be concluded that -318C/T polymorphism of CTLA-4 gene might play a significant role in the development of SLE in the Iranian patients.
Authors: Noelia Marquez Pete; María Del Mar Maldonado Montoro; Cristina Pérez Ramírez; Almudena Sánchez Martín; Juan Enrique Martínez de la Plata; Fernando Martínez Martínez; Rafael Caliz Caliz; Abdelali Daddaoua; María Del Carmen Ramírez Tortosa; Alberto Jiménez Morales Journal: J Pers Med Date: 2020-11-11