Rheumatoid arthritis

Decreased MEFV gene expression in rheumatoid arthritis patients

E. O. Etem, Koca, S. S., Erol, D., Yolbas, S., Oz, E., Elyas, H., and Isık, A., “Decreased MEFV gene expression in rheumatoid arthritis patients”, vol. 14, pp. 1000-1007, 2015.

Rheumatoid arthritis (RA) is a major cause of adult chronic inflammatory arthritis and an autoimmune disease of unknown etiology in which the inflammatory pathology involves T cell activation. Genetic mutations in the Mediterranean fever (MEFV) gene, encoding pyrin, influence the severity of RA, but the underlying mechanisms are not completely understood.

Associations between TNF-α polymorphisms and susceptibility to rheumatoid arthritis and vitiligo: a meta-analysis

Y. H. Lee and Bae, S. C., “Associations between TNF-α polymorphisms and susceptibility to rheumatoid arthritis and vitiligo: a meta-analysis”, vol. 14, pp. 5548-5559, 2015.

We investigated whether the tumor necrosis factor-a (TNF-α) promoter -238 A/G and -308 A/G polymorphisms are associated with rheumatoid arthritis (RA) and vitiligo susceptibility. MEDLINE and EMBASE databases and a manual search were used to identify articles in which TNF-α polymorphisms were determined in RA or vitiligo patients and controls. Meta-analysis was used to examine the associations between the TNF-α -238 A/G polymorphism and RA and vitiligo using the allelic contrast and dominant models.

Osteoprotegerin polymorphisms in Chinese Han patients with rheumatoid arthritis

X. H. Ye, Cheng, J. L., and Liu, R. P., “Osteoprotegerin polymorphisms in Chinese Han patients with rheumatoid arthritis”, vol. 14, pp. 6569-6577, 2015.

In order to investigate the association between osteoprotegerin (OPG) gene polymorphisms and rheumatoid arthritis (RA), we studied OPG rs3102735 T/C and rs2073618 G/C polymorphisms in a Chinese Han population comprising 574 patients with RA and 804 controls. Genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) was conducted. Our data indicated that OPG rs3102735 T/C and rs2073618 G/C polymorphisms were not associated with the risk of RA.

Association study of polymorphisms between the Radixin gene and rheumatoid arthritis in a Korean population

H. - K. Kim, Joo, J. - S., Lee, H. - Y., Kwon, J. - T., Sohn, D. - R., Hong, S. - J., and Kim, H. - J., “Association study of polymorphisms between the Radixin gene and rheumatoid arthritis in a Korean population”, vol. 13, pp. 3697-3703, 2014.

Radixin (RDX) is part of the ezrin-radixin-moesin (ERM) protein family. It functions as a membrane-cytoskeletal linker in actin-rich cell surface structures and is thought to be essential for cortical cytoskeleton organization, cell motility, adhesion, and proliferation. An increase in phosphorylated ERM in fibroblast-like synoviocytes contributes to rheumatoid arthritis (RA) synovial hyperplasia. We examined the genetic association between the RDX gene and RA in a Korean population.

Polymorphisms of the TIM-1 gene are associated with rheumatoid arthritis in the Chinese Hui minority ethnic population

J. R. Xu, Yang, Y., Liu, X. M., Sun, J. Y., and Wang, Y. J., “Polymorphisms of the TIM-1 gene are associated with rheumatoid arthritis in the Chinese Hui minority ethnic population”, vol. 11, pp. 61-69, 2012.

The T-cell immunoglobulin and mucin domain 1 (TIM-1) is known to be associated with susceptibility to rheumatoid arthritis (RA). We investigated the association of four single-nucleotide polymorphisms (SNPs) in the promoter region of the TIM-1 gene with susceptibility to RA in a Chinese Hui ethnic minority group. Using RFLP or sequence specific primer-PCR, 118 RA patients and 118 non-arthritis control individuals were analyzed for the -1637A>G, -1454G>A, -416G>C, and -232A>G SNPs in the TIM-1 gene.

Lack of association of IL-2RA and IL-2RB polymorphisms with rheumatoid arthritis in a Han Chinese population

J. Zhu, He, F., Zhang, D. D., Yang, J. Y., Cheng, J., Wu, R., Gong, B., Liu, X. Q., Ma, S., and Zhou, B., “Lack of association of IL-2RA and IL-2RB polymorphisms with rheumatoid arthritis in a Han Chinese population”, vol. 12, pp. 581-586, 2013.

Polymorphisms in IL-2RA and IL-2RB genes have been reported to confer susceptibility to rheumatoid arthritis (RA) in European populations. We investigated a possilbe association between SNPs in IL-2RA and IL-2RB genes and RA in a Han Chinese population. rs2104286 in IL-2RA and rs743777 in IL-2RB genes were genotyped in a Han Chinese cohort composed of 500 patients with RA and 600 controls. The levels of anti-cyclic citrullinated peptide antibodies (CCP) and rheumatoid factor were determined in all patients and controls.

Meta-analysis demonstrates association between TLR polymorphisms and rheumatoid arthritis

Y. H. Lee, Bae, S. - C., and Song, G. G., “Meta-analysis demonstrates association between TLR polymorphisms and rheumatoid arthritis”, vol. 12, pp. 328-334, 2013.

We investigated whether Toll-like receptor (TLR) polymorphisms confer susceptibility to rheumatoid arthritis and whether they influence clinical characteristics of rheumatoid arthritis. Studies were considered relevant for our meta-analysis if at least two comparisons of an issue were available. Eleven studies with 2078 patients with rheumatoid arthritis and 2581 controls were included, encompassing European and Asian studies.

CTLA-4 and CD86 genetic variants and haplotypes in patients with rheumatoid arthritis in southeastern China

C. - P. Liu, Jiang, J. - A., Wang, T., Liu, X. - M., Gao, L., Zhu, R. - R., Shen, Y., Wu, M., Xu, T., and Zhang, X. - G., “CTLA-4 and CD86 genetic variants and haplotypes in patients with rheumatoid arthritis in southeastern China”, vol. 12, pp. 1373-1382, 2013.

The cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and costimulatory molecule (CD80/CD86) genes are important susceptibility genes associated with autoimmune diseases. CTLA-4 polymorphisms have been found to be associated with various autoimmune diseases. However, the association data are inconsistent for rheumatoid arthritis (RA). We investigated the genetic association of CTLA-4 and CD86 polymorphisms with RA in a Chinese population.

Gαq gene promoter polymorphisms and rheumatoid arthritis in the Han Chinese population are not associated

Y. Li, Wang, Y., He, Y., Wang, D., Deng, L., Du, Y., and Shi, G., “Gαq gene promoter polymorphisms and rheumatoid arthritis in the Han Chinese population are not associated”, vol. 12, pp. 1841-1848, 2013.

Mice that lose Gαq from their immune system can spontaneously develop inflammatory arthritis. Gαq expression in the peripheral blood lymphocytes of rheumatoid arthritis (RA) patients is significantly decreased in comparison to that in healthy individuals, and reduced Gαq expression is closely correlated with RA disease activ­ity. These indicate that Gαq plays critical roles in the pathogenesis of RA.

Comparative genome-wide gene expression analysis of rheumatoid arthritis and osteoarthritis

C. Q. Yi, Ma, C. H., Xie, Z. P., Cao, Y., Zhang, G. Q., Zhou, X. K., and Liu, Z. Q., “Comparative genome-wide gene expression analysis of rheumatoid arthritis and osteoarthritis”, vol. 12, pp. 3136-3145, 2013.

Both rheumatoid arthritis (RA) and osteoarthritis (OA) are complex diseases. Studies and treatment of RA and OA have mainly focused on individual factors. However, there is still no clear understanding of their causes and adequate treatment alternatives are still being sought. We applied gene set-enrichment analysis to microarray datasets of RA and OA to look for regulatory mechanisms. We found 32 highly significant pathways, including 18 downregulated and 14 upregulated pathways associated with RA.

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