PTPN22, CTLA4, FcγRIIa, FcγRIIIa and FcγRIIIb polymorphisms in Tunisian patients with systemic lupus erythematosus
Journal Title: International Journal of Clinical Rheumatology - Year 2019, Vol 14, Issue 1
Abstract
Background: Pathogenesis of systemic lupus erythematosus (SLE) involves both T cell tolerance breakdown and pathogenic autoantibodies. Polymorphisms in T cell regulatory proteins (PTPN22 and CTLA-4) and IgG receptors (FcγR) genes could impact their functions. Consequently, we aimed to study the role of PTPN22, CTLA-4, FcγRII and FcγRIII polymorphisms on either SLE susceptibility or its severity. Methods: Consequently, PTPN22 rs2476601 (R620W), CTLA-4 rs231775 (+49 A/G), FcγRIIa rs1801274 (R131H), FcγRIIIa rs396991 (F158V) and FcγRIIIb Na1/Na2 polymorphisms were examined in 137 SLE patients and 100 healthy blood donors matched in age, gender and ethnic origin. Results: The PTPN22-620*W mutant allele was significantly more prevalent in SLE patients comparatively to controls; p=0.001, OR [95% CI] = 7.8 [1.73-48.85]. Inversely, the frequency of the CTLA-4*G/G homozygous genotype was significantly lower in patients (35%) than in controls; p=0.02, OR [95% CI] = 0.54 [0.31-0.94]. Regarding to FcγR polymorphisms, while the FcγRIIIa*V allele was more prevalent in case of SLE (0.562 vs 0.35); p=0.001, OR [95% CI] = 2.77 [1.38-5.68], FcγRIIa and FcγRIIIb did not show any association with SLE. Analytic results showed that the prevalence of anti-dsDNA autoantibody was significantly higher in patients carrying PTPN22*W allele p=0.038. Otherwise, no correlation was found between the five studied polymorphisms and either clinical or biological patients characteristics. Conclusion: PTPN22 R620W, CTLA-A +49 A/G and FcγRIIIa F158V polymorphisms seem to be related to SLE susceptibility in Tunisian.
Authors and Affiliations
Tarak Dhaouadi, Imen Sfar, Lamia Ben Hassine, Sami Turki, Narjess Khalfallah, Taïeb Ben Abdallah, Yousr Gorgi
Keywords
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