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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

1
Department of Biochemistry and Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, Poland
2
Department of Pharmacology, Pomeranian Medical University, 70-111 Szczecin, Poland
3
Department of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, Poland
4
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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Abstract

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
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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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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