共查询到20条相似文献,搜索用时 15 毫秒
1.
Zhi-Chao Yuan Jia-Min Wang Lin-Chong Su Wang-Dong Xu An-Fang Huang 《Journal of cellular physiology》2019,234(7):11760-11767
Recent findings showed elevated expression of tumor necrosis factor (TNF)-like ligand 1A (TL1A) in rheumatoid arthritis (RA) patients and arthritis mice. However, whether TL1A gene polymorphisms may correlate with RA susceptibility needs to be discussed. This case-control study was performed on 350 RA patients and 556 healthy subjects to identify TL1A genetic variants (rs3810936, rs6478109, and rs7848647) and their possible association with TL1A levels, susceptibility to and severity of RA. Odds ratio and 95% confidence interval were calculated to represent the correlation between TL1A polymorphisms and RA. The TL1A serum levels were evaluated. Results showed that frequencies of TC, TT + TC genotypes of rs3810936, rs7848647 in RA patients were significantly lower in RA patients compared with controls. Patients with C allele showed more severe disease course (disease activity index: erythrocyte sedimentation rate, rheumatoid factor) than in carriers of T allele. However, the allele or genotype frequencies of rs6478109 were not associated with RA. In addition, TL1A genetic variants conferred higher TL1A levels in RA patients compared with controls. In conclusion, these findings indicated an association between TL1A rs3810936, rs7848647 variation and the susceptibility of RA in a sample of Chinese individuals, and TL1A may correlate with severity of RA. 相似文献
2.
Berthold Hoppe Thomas Häupl Rudolf Gruber Holger Kiesewetter Gerd R Burmester Abdulgabar Salama Thomas Dörner 《Arthritis research & therapy》2006,8(2):R34-6
Peptidylarginine deiminase type 4 (PADI4) genotypes were shown to influence susceptibility to rheumatoid arthritis (RA) in the Japanese population. Such an association
could not previously be confirmed in different European populations. In the present study, we analysed exons 2–4 of PADI4 in 102 German RA patients and 102 healthy individuals to study the influence of PADI4 variability on RA susceptibility by means of haplotype-specific DNA sequencing. Analyses of the influence of PADI4 and HLA-DRB1 genotypes on disease activity and on levels of anti-cyclic citrullinated peptide antibodies were performed. 相似文献
3.
Klaus Stark Jozef Rovenský Stanislava Blažičková Hans Grosse-Wilde Stanislav Ferencik Christian Hengstenberg Rainer H Straub 《Arthritis research & therapy》2009,11(3):R70-10
Introduction
Both genetic and environmental factors contribute to rheumatoid arthritis (RA), a common and complex autoimmune disease. As well as the major susceptibility gene HLA-DRB1, recent genome-wide and candidate-gene studies reported additional evidence for association of single nucleotide polymorphism (SNP) markers in the PTPN22, STAT4, OLIG3/TNFAIP3 and TRAF1/C5 loci with RA. This study was initiated to investigate the association between defined genetic markers and RA in a Slovak population. In contrast to recent studies, we included intensively-characterized osteoarthritis (OA) patients as controls. 相似文献4.
Scott W Graf Sue Lester Johannes C Nossent Catherine L Hill Susanna M Proudman Anita Lee Maureen Rischmueller 《Arthritis research & therapy》2012,14(1):R28-7
Introduction
Low copy number (CN) of the Fc gamma receptor 3B (FCGR3B) gene has been associated with systemic autoimmune disease. This receptor for IgG is present almost exclusively on neutrophils and plays a role in their interaction with immune complexes. At present the relationship between FCGR3B and rheumatoid arthritis (RA) is unclear. The aim of the present study was to investigate whether low CN of the FCGR3B gene is associated with susceptibility to RA. 相似文献5.
So-Young Bang Tae-Un Han Chan-Bum Choi Yoon-Kyoung Sung Sang-Cheol Bae Changwon Kang 《Arthritis research & therapy》2010,12(3):R115
Introduction
Anti-cyclic citrullinated peptide autoantibodies (anti-CCP) are the most specific serologic marker for rheumatoid arthritis (RA). Genetic polymorphisms in a citrullinating (or deiminating) enzyme, peptidyl arginine deiminase type IV (PADI4) have been reproducibly associated with RA susceptibility in several populations. We investigated whether PADI4 polymorphisms contribute to anti-CCP-negative as well as -positive RA, whether they influence disease severity (erosive joint status), and whether they interact with two major risk factors for RA, Human Leukocyte Antigen-DRB1 (HLA-DRB1) shared epitope (SE) alleles and smoking, depending on anti-CCP and erosive joint status. 相似文献6.
Ronenn Roubenoff 《Arthritis research & therapy》2009,11(2):108
Rheumatoid cachexia, loss of muscle mass and strength and concomitant increase in fat mass, is very common in patients with
rheumatoid arthritis (RA). Despite great advances in the treatment of RA, it appears that rheumatoid cachexia persists even
after joint inflammation improves. Rheumatoid cachexia may be an important risk factor for cardiovascular disease and excess
mortality in RA. In this issue of Arthritis Research & Therapy, Elkan and colleagues demonstrate a link between rheumatoid cachexia and metabolic syndrome, further reinforcing the need
for therapy directed beyond inflammation and at the metabolic consequences of RA. 相似文献
7.
The basis of susceptibility to rheumatoid arthritis (RA) is complex, comprising genetic and environmental susceptibility factors.
We have reviewed the available approaches to the investigation of the genetic basis of complex diseases and how these are
being applied to RA. Affected-sibling-pair methods for nonparametric linkage analysis, linkage-disequilibrium-based approaches,
transmission disequilibrium testing, and disease-association studies are discussed. The pros, cons, and limitations of the
approaches are considered and are illustrated by examples from the literature about rheumatoid arthritis. 相似文献
8.
Rogelio Palomino-Morales Carlos Gonzalez-Juanatey Tomas R Vazquez-Rodriguez Luis Rodriguez Jose A Miranda-Filloy Benjamin Fernandez-Gutierrez Javier Llorca Javier Martin Miguel A Gonzalez-Gay 《Arthritis research & therapy》2010,12(2):R71
Introduction
We determined the contribution of the methylene tetrahydrofolate reductase (MTHFR) 677 C>T and 1298 A>C gene polymorphisms to the susceptibility to rheumatoid arthritis (RA). We also assessed whether these two MTHFR gene polymorphisms may be implicated in the development of cardiovascular (CV) events and subclinical atherosclerosis manifested by the presence of endothelial dysfunction, in a series of Spanish patients with RA. 相似文献9.
Significant levels of circulating immune complexes (ICs) containing rheumatoid factors and immunoglobulin G in peripheral
blood are a characteristic feature of rheumatoid arthritis (RA). ICs interact through Fcγ receptors (FcγR) to activate phagocytes
in numerous inflammatory processes. The high concentration of neutrophils in synovial fluid during active phases of the disease,
together with their destructive capacity, pose important questions as to their role in the pathogenesis of RA. Functional
defects in RA or control peripheral blood neutrophil FcγRs were examined with a specific FcγR-mediated reactive oxygen species
(ROS) assay. Heterologous cross-linking of FcγRIIa and FcγRIIIb on neutrophils resulted in a significantly decreased production
of ROS by RA cells compared with controls matched for age and sex. However, expression and homologous ligation of receptors
did not differ between these groups. These data suggest that neutrophil priming does occur before emigration into the joint
and that blood neutrophils from patients with RA have a functional impairment in cooperative FcγR-mediated ROS generation.
This may account for the increased susceptibility to bacterial infection that arises in patients with severe disease. 相似文献
10.
Summary B and T lymphocyte attenuator (BTLA) is an immuno-inhibitory receptor with the ability to deliver inhibitory signal for suppressing lymphocyte activation. To test the potential association of the human BTLA gene with the development of rheumatoid arthritis (RA), a genetic case-control association study was conducted, by using a single nucleotide polymorphism (SNP), C+800T SNP, in the exon 5 of the human BTLA gene for genotyping 93 RA patients and 294 normal control individuals. The results showed that there is statistically significant difference in the genotype distributions between RA and control groups (p = 0.022). When compared with the heterozygous genotype (C/T genotype), the homozygous genotype (C/C or T/T genotype) appears to confer the increased risk of the RA susceptibility with the odds ratio of 1.88 (p = 0.015). These data indicate the significant association between the C+800T SNP in the BTLA gene with the RA susceptibility. 相似文献
11.
Mohamed M Thabet Thomas WJ Huizinga Désirée M van der Heijde Annette HM van der Helm-van Mil 《Arthritis research & therapy》2009,11(5):R155
Introduction
Undifferentiated arthritis (UA) has a variable disease course; 40 to 50% of UA patients remit spontaneously, while 30% develop rheumatoid arthritis (RA). Identifying the UA patients who will develop RA is essential to initiate early disease-modifying anti-rheumatic drug (DMARD) therapy. Although the presence of bone erosions at baseline is predictive for a severe destructive disease course in RA, the prognostic importance of erosive joints for disease outcome in UA is unknown. This study evaluates the predictive value of erosive joints for the disease outcome in UA as measured by RA development and disease persistency. 相似文献12.
S. J. Hasstedt D. O. Clegg L. Ingles R. H. Ward 《American journal of human genetics》1994,55(4):738-746
Twenty-eight pedigrees were ascertained through pairs of first-degree relatives diagnosed with rheumatoid arthritis (RA). RA was confirmed in 77 pedigree members including probands; the absence of disease was verified in an additional 261 pedigree members. Pedigree members were serologically typed for HLA. We used likelihood analysis to statistically characterize the HLA-linked RA susceptibility locus. The genetic model assumed tight linkage to HLA. The analysis supported the existence of an HLA-linked RA susceptibility locus, estimated the susceptibility allele frequency as 2.16%, and estimated the lifetime penetrance as 41% in male homozygotes and as 48% in female homozygotes. Inheritance was recessive in males and was nearly recessive in females. In addition, the analysis attributed 78% of the variance within genotypes to genetic or environmental effects shared by siblings. The genetic model inferred in this analysis is consistent with previous association, linkage, and familial aggregation studies of RA. The inferred HLA-linked RA susceptibility locus accounts for approximately one-half of familial RA, although it accounts for only approximately one-fifth of the RA in the population. Although other genes may account for the remaining familial RA, a large portion of RA cases may occur sporadically. 相似文献
13.
The polymorphisms of Tim-1 promoter region are associated with rheumatoid arthritis in a Korean population 总被引:6,自引:0,他引:6
It has been determined that the family of T-cell immunoglobulin domain and mucin domain (TIM) proteins is expressed on T cells. A member of the TIM family, TIM-1, is considered to be a membrane protein associated with the development of Th2-biased immune responses and selectively expressed on Th2 cells. We previously showed that the exon 4 variations of Tim-1 are associated with susceptibility to allergic diseases, as well as autoimmune diseases such as rheumatoid arthritis (RA). In this study, we assessed the association between genotype and allele frequencies of the Tim-1 gene promoter region, in both RA patients and the controls without RA, using polymerase chain reaction-restriction fragment length polymorphism and single-base extension methods. We further investigated the relationships among the genotypes of each polymorphism and C-reactive protein or rheumatoid factor levels in RA patients. The genotype and allele frequencies of the –1637A>G polymorphism in RA patients are significantly different from those in the non-RA controls (P=0.0004 and P=0.001, respectively). Our results strongly suggest that polymorphism in the Tim-1 promoter region might be associated with susceptibility to RA. 相似文献
14.
Mattyasovszky S Skapenko A Kalden JR Lipsky PE Schulze-Koops H 《Arthritis research & therapy》2006,8(3):R63-3
On the basis of their biological function, potential genetic candidates for susceptibility to rheumatoid arthritis can be
postulated. IFNGR1, encoding the ligand-binding chain of the receptor for interferon gamma, IFNγR1, is one such gene because interferon gamma
is involved in the pathogenesis of the disease. In the coding sequence of IFNGR1, two nucleotide positions have been described to be polymorphic in the Japanese population. We therefore investigated the
association of those two IFNGR1 single nucleotide polymorphisms with rheumatoid arthritis in a case-control study in a central European population. Surprisingly,
however, neither position was polymorphic in the 364 individuals examined, indicating that IFNGR1 does not contribute to susceptibility to rheumatoid arthritis, at least in Caucasians. 相似文献
15.
Eming R Visconti K Hall F Sekine C Kobayashi K Chen Q Cope A Kanazawa S Peterlin M Rijnders A Boots A Meijerink J Sønderstrup G 《Arthritis research》2002,4(Z3):S133-S140
Genetic susceptibility to rheumatoid arthritis (RA), a common autoimmune disease, is associated with certain HLA-DR4 alleles. Treatments are rarely curative and are often tied to major side effects. We describe the development of a humanized mouse model wherein new, less toxic, vaccine-like treatments for RA might be pretested. This model includes four separate transgenes: HLA-DR*0401 and human CD4 molecules, a RA-related human autoantigenic protein (HCgp-39), and a T-cell receptor (TCRalphabeta) transgene specific for an important HCgp-39 epitope, eliciting strong Th1 responses in the context of HLA-DR*0401. 相似文献
16.
17.
This study aimed to evaluate changes in plasma amino acid and nicotinamide metabolites concentrations in rheumatoid arthritis (RA) in a search for potential biomarkers of the disease activity and the effect treatment. Analysis of plasma metabolite patterns with liquid chromatography/mass spectrometry revealed specific changes in RA as well as correlations with clinical parameters. Combined concentration parameter calculated as [aspartic acid]?+?[threonine]?+?[tryptophan]???[histidine]???[phenylalanine] offered the strongest correlation (p?<?0.001) with pain joint count, swollen joint count and DAS 28. Such analysis of amino acid and related metabolite pattern offers potential for diagnosis as well as for monitoring disease progression and therapy in RA. 相似文献
18.
Olsson LM Lindqvist AK Källberg H Padyukov L Burkhardt H Alfredsson L Klareskog L Holmdahl R 《Arthritis research & therapy》2007,9(5):R98
Rheumatoid arthritis (RA) is a chronic inflammatory disease with a heritability of 60%. Genetic contributions to RA are made
by multiple genes, but only a few gene associations have yet been confirmed. By studying animal models, reduced capacity of
the NADPH-oxidase (NOX) complex, caused by a single nucleotide polymorphism (SNP) in one of its components (the NCF1 gene), has been found to increase severity of arthritis. To our knowledge, however, no studies investigating the potential
role played by reduced reactive oxygen species production in human RA have yet been reported. In order to examine the role
played by the NOX complex in RA, we investigated the association of 51 SNPs in five genes of the NOX complex (CYBB, CYBA, NCF4, NCF2, and RAC2) in a Swedish case-control cohort consisting of 1,842 RA cases and 1,038 control individuals. Several SNPs were found to
be mildly associated in men in NCF4 (rs729749, P = 0.001), NCF2 (rs789181, P = 0.02) and RAC2 (rs1476002, P = 0.05). No associations were detected in CYBA or CYBB. By stratifying for autoantibody status, we identified a strong association for rs729749 (in NCF4) in autoantibody negative disease, with the strongest association detected in rheumatoid factor negative men (CT genotype
versus CC genotype: odds ratio 0.34, 95% confidence interval 0.2 to 0.6; P = 0.0001). To our knowledge, this is the first genetic association identified between RA and the NOX complex, and it supports
previous findings from animal models of the importance of reactive oxygen species production capacity to the development of
arthritis. 相似文献
19.
Association of a functional promoter polymorphism mapping to the Fc receptor-like 3 (FCRL3) gene has recently been reported and replicated with rheumatoid arthritis (RA) in Japanese populations. The aim of this study
was to investigate association of the FCRL3 gene with RA in UK subjects. DNA was available from 1065 patients with RA and
2073 population controls from the UK. Four single nucleotide polymorphism (SNP) markers (FCRL3-169*C/T (fclr3_3, rs7528684),
fclr3_4 (rs11264799), fclr3_5 (rs945635), fclr3_6 (rs3761959)) all previously associated with RA in a Japanese population
were genotyped in 761 RA samples and 484 controls. In the remaining samples, only the putative disease causal polymorphism,
FCRL3-169*C/T, was tested. Genotyping was performed using either the Sequenom MassArray iPlex platform or a 5' Allelic discrimination
assay (Taqman, ABI). Extensive linkage disequilibrium was present across the promoter SNPs genotyped (r2 values = 0.60-0.98). Allele frequencies did not differ between RA cases and controls either for the putative disease causal
polymorphism (odds ratio FCRL3-169*C allele = 0.97 (0.87-1.07), p = 0.51) or for the other SNPs tested. Similarly, no association
was detected with RA using haplotype analysis or when stratification by shared epitope carriage or by presence of rheumatoid
factor was undertaken. This study was powered to detect an effect size of 1.24 or greater for the FCRL3-169*C/T functional
promoter polymorphism but no evidence for association was detected, suggesting that this gene will not have a substantial
effect in determining susceptibility to RA in populations of Northern European descent. 相似文献
20.
目的:分析抗抗环瓜氨酸肽(CCP)、类风湿因子(RF)、抗角蛋白抗体(AKA)、抗链球菌溶血素"O"(ASO、)抗RA33抗体对类风湿关节炎诊断的临床价值。方法:选取2015年3月至2016年2月本院收治的79例类风湿关节炎患者视为观察组,另选取同期本院收治的85例非类风湿关节炎自身免疫疾病者视为对照组。比较类风湿关节炎和非类风湿关节炎患者抗CCP、RF、AKA、ASO、RA33阳性情况,对抗CCP、RF、AKA、ASO、RA33的特异度和敏感度予以分析。结果:两组患者的ASO阳性率比较无显著性差异(P0.05),观察组的抗CCP、RF、AKA、RA33阳性率显著高于对照组(P0.05)。抗CCP抗体诊断类风湿关节炎患者的敏感度为64.56%、特异度为92.94%;RF敏感度为60.46%、特异度为80.00%;AKA敏感度为51.90%、特异度为96.47%;ASO敏感度为10.13%、特异度为89.41%;抗RA33抗体敏感度为30.38%、特异度为95.29%。结论:抗CCP、RF、AKA、RA33对类风湿关节炎患者均具有较高的诊断价值,而ASO在类风湿关节炎患者中的诊断价值不明显。 相似文献