Impact of the IL-17F, IL-23 and IL-23R on susceptibility and phenotype of systemic lupus erythematosus

• Published in: Autoimmunity (Chur, Switzerland) Vol. 49; no. 6; pp. 373 - 382
• Main Authors: Paradowska-Gorycka, Agnieszka, Sowinska, Anna, Stypinska, Barbara, Grobelna, Malwina Katarzyna, Walczyk, Marcela, Olesinska, Marzena, Piotrowski, Piotr, Jagodziński, Paweł Piotr
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 01.09.2016
• Subjects: Adult; Aged; Aged, 80 and over; Alleles; Association study; Autoantibodies - blood; Autoantibodies - immunology; Biomarkers; Case-Control Studies; cytokine; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Haplotypes; Humans; Interleukin-17 - genetics; Interleukin-23 - genetics; Lupus Erythematosus, Systemic - blood; Lupus Erythematosus, Systemic - diagnosis; Lupus Erythematosus, Systemic - etiology; Male; Middle Aged; Odds Ratio; pathogenesis; Phenotype; Poland; Polymorphism, Single Nucleotide; polymorphisms; Receptors, Interleukin - genetics; Risk; SLE; Young Adult; cytokine; Association study; pathogenesis; SLE; polymorphisms
• ISSN: 0891-6934; 1607-842X
• DOI: 10.1080/08916934.2016.1196678

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 2 - 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 2 -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.