Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.

Autor: Alghamdi SA; Medical Genetics, Clinical Laboratory Department, College of Applied Medical Sciences, Taif University, Taif, Saudi Arabia. Electronic address: G.saleh@tu.edu.sa., Kattan SW; Department of Medical Laboratory, College of Applied Medical Sciences, Taibah University, Yanbu, Saudi Arabia., Toraih EA; 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., Alrowaili MG; Department of Surgery (Orthopedic Division), Faculty of Medicine, Northern Border University, Arar, Saudi Arabia., Fawzy MS; 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., Elshazli RM; 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.
Jazyk: angličtina
Zdroj: Gene [Gene] 2021 Feb 05; Vol. 768, pp. 145270. Date of Electronic Publication: 2020 Oct 26.
DOI: 10.1016/j.gene.2020.145270
Abstrakt: 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.
(Copyright © 2020 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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