To investigate the potential association between IL-12B and IL-27 gene polymorphisms and systemic lupus erythematosus (SLE), we performed a casecontrol study based on the Polish population. Patients with SLE and healthy individuals were examined for À6415
BackgroundType-1 immunity plays a fundamental pathogenic role in various diseases including systemic lupus erythematosus (SLE), which is a multisystem autoimmune disorder with heterogeneity in clinical manifestations and disease course. Although the etiology and pathogenic mechanisms of SLE remains elusive, the actual state of knowledge allow diagnose that genetic information is important for understanding the mechanisms of the disorder. In this respect several studies support that gene encoding cytokines, which regulate CD4+T cells differentiation, are attractive genetic factors that may predispose to susceptibility and severity of SLEObjectivesTo investigate the potential association between IL-12B and IL-27 gene polymorphisms and SLE, we performed a case-control study based on Polish population.MethodsSLE patients and healthy individuals, were examined for -6415 CTCTAA/GC (rs17860508) and +1188A/C (rs3212227) in IL-12B and -924A/G (rs153109) and 4730T/C (rs181206) in IL-27 gene polymorphisms using the HRM method, PCR–RFLP method and TaqMan SNP genotyping assay, respectively.ResultsAn increased frequency of GC/GC genotype as well as GC allele of the IL-12B rs17860508 was found in patients with SLE, as compared with healthy subjects (p<0.001). We did not find differences in genotype and allele frequencies of the IL-12B rs3212227 and IL-27 rs153109 and rs181206 variants between SLE patients and controls. IL-27 haplotype CG indicated higher risk for SLE (P=0.002), whereas haplotype TG indicated reduced risk for SLE (p=0.005). The IL-12B rs3212227 A/C polymorphism was associated with the mean value of the platelets, urea and complement C3 level. Furthermore IL-12B rs17860508 genetic variant showed correlation with platelets, prothrombin time, international normalized ratio and alkaline phosphatase.ConclusionsOur results revealed that IL-12B rs17860508 as well as IL-27 haplotype CG are genetic risk factors for SLE and that both IL-12B rs17860508 and rs3212227 predict disease phenotype.ReferencesMcCarthy EM, Smith S, Lee RZ, Cunnane G, Doran MF, Donnelly S et al. The association of cytokines with disease activity and damage scores in systemic lupus erythematosus patients. Rheumatology 2014; 53:1586–1594.Miteva LD, Manolova IM, Ivanova MG, Rashkov RK, Stoilov RM, Gulubova MV et al. Functional genetic polymorphisms in interlukin-12B gene in association with systemic lupus erythematosus. Rheumatol Int 2012; 32:53–59.Koening KF, Groeschl I, Pesickova SS, Tesar V, Eisenberger U, Trendelenburg M. Serum cytokine profil in patients with active lupus nephritis. Cytokine 2012; 60: 410–416.Guerra SG, Vyse TJ, Cunninghame Graham DS. The genetics of lupus: a functional perspective. Arthritis Res Ther. 2012;14(3):211.AcknowledgementSupported by grant No 502–01–01124182–07474, Poznań University of Medical Sciences. The technical assistance of Mr. Agnieszka Hertel, Wieslawa Frankowska and Teresa Golaszewska is gratefully acknowledged. We are also grateful to all of the SLE patients whose cooperation made this study possible.Disclosur...
Systemic lupus erythematosus (SLE) is a disease characterized by excessive proinflammatory cytokine production and damage to multiple organ systems. To investigate the potential association between cytokine gene polymorphisms and SLE, we performed a case-control study based on Polish population. SLE patients and controls, were examined for IL-23A rs11171806 G/A and IL-23R (rs1884444 G/T, rs10489629 G/A) by TaqMan SNP genotyping assay, for IL-17F rs763780 A/G and rs2397084A/G using the PCR- RFLP method. An increased frequency of AG genotype as well as G allele of the IL-17F rs763780 was found in patients with SLE, as compared with healthy subjects (OR = 3.947; p = 0.001 and OR = 3.538; p = 0.002, respectively). Frequencies of the rs1884444 TT genotype (OR = 138.1) and the rs1884444 T allele (OR = 2.176) were also higher in SLE patients (both p < 0.0001). Overall, weak LD was observed between the IL-17F rs763780 A/G and rs2397084 A/G polymorphisms (D'-0.003, r - 0.000). From four possible haplotypes, frequencies of AG showed differences between both examined groups (p < 0.0001). We also observed a weak LD between the IL-23R rs10489629G/A and rs1884444 G/T (D'-0.199, r -0.026). The genotype-phenotype analysis showed significant association between the IL-17F rs2397084 and mean value of the hemoglobin (p = 0.01), the IL-17F rs763780 and age (p = 0.008) and lupus anticoagulant (p = 0.09), the IL-23 rs11171806 and urea (p = 0.08) and C3 complement (p = 0.03), and the IL-23R rs1884444 G/T and activated partial thromboplastin time (p = 0.06). Present findings indicated that IL-17F rs763780 A/G and IL-23R rs1884444 G/T polymorphisms may be involved in susceptibility to SLE in the Polish population.
The findings of this study might help to develop better strategies to attract future trainees to surgical specialties, particularly vascular surgery, and improve work environment.
Our study demonstrates that the DNMT3A -448A> G SNP might protect from SLE and its immunologic manifestations in a sample from the Polish population.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.