RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis
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...
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2016-04-01
|
Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | http://www.mdpi.com/1422-0067/17/4/488 |
id |
doaj-dee40ad17cfc4905b6d5d71d6a22f77d |
---|---|
record_format |
Article |
spelling |
doaj-dee40ad17cfc4905b6d5d71d6a22f77d2020-11-25T01:05:58ZengMDPI AGInternational Journal of Molecular Sciences1422-00672016-04-0117448810.3390/ijms17040488ijms17040488RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid ArthritisAgnieszka Paradowska-Gorycka0Barbara Stypinska1Andrzej Pawlik2Katarzyna Romanowska-Prochnicka3Ewa Haladyj4Malgorzata Manczak5Marzena Olesinska6Department of Biochemistry and Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, PolandDepartment of Biochemistry and Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, PolandDepartment of Pharmacology, Pomeranian Medical University, 70-111 Szczecin, PolandDepartment of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, PolandDepartment of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, PolandDepartment of Epidemiology and Health Promotion, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, PolandDepartment of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, PolandBackground: 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.http://www.mdpi.com/1422-0067/17/4/488Th17 cellsrheumatoid arthritispathogenesisRORcpolymorphisms |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Agnieszka Paradowska-Gorycka Barbara Stypinska Andrzej Pawlik Katarzyna Romanowska-Prochnicka Ewa Haladyj Malgorzata Manczak Marzena Olesinska |
spellingShingle |
Agnieszka Paradowska-Gorycka Barbara Stypinska Andrzej Pawlik Katarzyna Romanowska-Prochnicka Ewa Haladyj Malgorzata Manczak Marzena Olesinska RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis International Journal of Molecular Sciences Th17 cells rheumatoid arthritis pathogenesis RORc polymorphisms |
author_facet |
Agnieszka Paradowska-Gorycka Barbara Stypinska Andrzej Pawlik Katarzyna Romanowska-Prochnicka Ewa Haladyj Malgorzata Manczak Marzena Olesinska |
author_sort |
Agnieszka Paradowska-Gorycka |
title |
RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis |
title_short |
RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis |
title_full |
RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis |
title_fullStr |
RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis |
title_full_unstemmed |
RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis |
title_sort |
rorc2 genetic variants and serum levels in patients with rheumatoid arthritis |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1422-0067 |
publishDate |
2016-04-01 |
description |
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. |
topic |
Th17 cells rheumatoid arthritis pathogenesis RORc polymorphisms |
url |
http://www.mdpi.com/1422-0067/17/4/488 |
work_keys_str_mv |
AT agnieszkaparadowskagorycka rorc2geneticvariantsandserumlevelsinpatientswithrheumatoidarthritis AT barbarastypinska rorc2geneticvariantsandserumlevelsinpatientswithrheumatoidarthritis AT andrzejpawlik rorc2geneticvariantsandserumlevelsinpatientswithrheumatoidarthritis AT katarzynaromanowskaprochnicka rorc2geneticvariantsandserumlevelsinpatientswithrheumatoidarthritis AT ewahaladyj rorc2geneticvariantsandserumlevelsinpatientswithrheumatoidarthritis AT malgorzatamanczak rorc2geneticvariantsandserumlevelsinpatientswithrheumatoidarthritis AT marzenaolesinska rorc2geneticvariantsandserumlevelsinpatientswithrheumatoidarthritis |
_version_ |
1725192155887042560 |