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Int. J. Mol. Sci. 2016, 17(4), 488; doi:10.3390/ijms17040488

RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis

Department of Biochemistry and Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, Poland
Department of Pharmacology, Pomeranian Medical University, 70-111 Szczecin, Poland
Department of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, Poland
Department of Epidemiology and Health Promotion, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, Poland
Author to whom correspondence should be addressed.
Academic Editor: Stephen A. Bustin
Received: 15 February 2016 / Revised: 17 March 2016 / Accepted: 21 March 2016 / Published: 1 April 2016
(This article belongs to the Collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
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Background: In the present study, we aimed to evaluate whether polymorphisms within the RORc2 gene are involved in the risk and severity of rheumatoid arthritis (RA). Methods: 591 RA patients and 341 healthy individuals were examined for RORc2 gene polymorphisms. Serum retinoic acid receptor-related orphan receptor C (RORc) levels were measured by enzyme-linked immunosorbent assay (ELISA). Results: The rs9826 A/G, rs12045886 T/C and rs9017 G/A RORc2 gene SNPs show no significant differences in the proportion of cases and control. Overall, rs9826 and rs9017 were in high linkage disequilibrium (LD) with D’ = 0.952 and r2 = 0.874, except rs9826 and rs12045886; and rs12045886 and rs9017 in weak LD. The genotype–phenotype analysis showed a significant association between RORc2 rs9826 A/G and rs9017 G/A single nucleotide polymorphisms (SNPs) and median of C-reactive protein (CRP). Serum RORc levels was higher in RA patients with rs9826AA, rs12045886TT and -TC, and rs9017AA genotypes compared to healthy subjects with the same genotypes (p = 0.02, p = 0.04 and p = 0.01, respectively). Moreover, the median of RORc protein level was higher in RA patients with number of swollen joints bigger then 3 (p = 0.04) and with Health Assessment Questionnaires (HAQ) score bigger then 1.5 (0.049). Conclusions: Current findings indicated that the RORc2 genetic polymorphism and the RORc2 protein level may be associated with severity of RA in the Polish population. View Full-Text
Keywords: Th17 cells; rheumatoid arthritis; pathogenesis; RORc; polymorphisms Th17 cells; rheumatoid arthritis; pathogenesis; RORc; polymorphisms

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Paradowska-Gorycka, A.; Stypinska, B.; Pawlik, A.; Romanowska-Prochnicka, K.; Haladyj, E.; Manczak, M.; Olesinska, M. RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis. Int. J. Mol. Sci. 2016, 17, 488.

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