<i>SPP1</i>rs9138 variant contributes to the severity of radiological damage in anti-citrullinated protein autoantibody-negative rheumatoid arthritis

Juge, Pierre-Antoine; Steenbergen, H.W. van; Constantin, Arnaud; Tobón, Gabriel J.; Schaeverbeke, Thierry; Gazal, Steven; Combe, Bernard; Devauchelle-Pensec, ValÃ©rie; Nigon, Delphine; Mil, Annette H M van der Helm-van; Dieudé, Philippe

doi:10.1136/annrheumdis-2014-205539

Cited by 14 publications

(8 citation statements)

References 19 publications

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“…We recently identified SPP1 rs9138 as a new RA susceptibility variant, which was also identified as having a prognostic effect by contributing to the progression of joint damage in ACPA-negative RA. 14 Our results reinforce the role of SPP1 as a modifier gene in RA by affecting the RTX response. Of interest, similar to SPP1 , IRF5 has also been reported as a susceptibility and modifier gene in RA.…”

Section: Discussionsupporting

confidence: 82%

Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis

et al. 2017

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BackgroundThe type 1 interferon (IFN) pathway has been identified to potentially affect the response to rituximab (RTX) for rheumatoid arthritis (RA), which suggests the contribution of type 1 IFN pathway genes such as IFN regulatory factor 5 and 7 (IRF5 and IRF7), tyrosine kinase 2 (TYK2), signal transducer and activator of transcription 4 (STAT4) and osteopontin (SPP1). Our objective was to study functional variants of these IFN pathway genes as predictors of the European League Against Rheumatism (EULAR) response to RTX for RA at week 24 (W24).MethodsLogistic regression analysis with a stepwise multivariate model adjusted for sex, age and DAS28-CRP (Disease Activity Score in 28 joints with C reactive protein) in 115 patients from the SMART randomised studywas used to analyse the association between the candidate variants and W24 EULAR response. Because the variant TNFSF13B rs9514828 was previously found associated with RTX response in the same population, it was included in the analysis.ResultsThe combination of IRF5 rs2004640, SPP1 rs9138 and TNFSF13B rs9514828 was strongly associated with good/moderate EULAR response to RTX at W24: p=9.34×10−6, OR 11.37 (95% CI 4.03 to 35.28), positive predictive value 91% and negative predictive value 54%.ConclusionOur results support the contribution of the IRF5, SPP1 and TNFSF13B genotypic combination in the response to RTX for RA at W24.

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Section: Discussionsupporting

confidence: 82%

Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis

et al. 2017

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“…Polymorphisms in the OPN gene have been reported to exhibit functional implications and have been evaluated in several conditions (14), including the associations with autoimmune lymphoproliferative syndrome (15), type 1 diabetes (16), multiple sclerosis (17), systemic lupus erythematosus (18), rheumatoid arthritis (19,20) and Crohn's disease (21). However, the associations between OPN gene polymorphisms and urolithiasis are not widely reported (22,23), and have not been investigated in Chinese populations.…”

Section: Introductionmentioning

confidence: 99%

Association between OPN genetic variations and nephrolithiasis risk

Xu¹,

Zhao²,

Ye³

et al. 2016

Biomedical Reports

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Osteopontin (OPN) has an important role in urolithiasis. However, few studies have explored the association between OPN genetic variants and urolithiasis risk. In the present study, three single-nucleotide polymorphisms (SNPs) (rs28357094, rs11439060 and rs11730582) located on the promoter of OPN were genotyped in a total of 480 individuals, including 230 nephrolithiasis patients and 250 matched healthy controls, and the associations between these SNPs and nephrolithiasis risk in different genetic models was assessed. No significant differences were identified in the genotype and allele frequencies of OPN rs28357094 or rs11730582 (P=0.805 for rs28357094; P=0.577 for rs11730582, respectively). However, carriers with the OPN rs11439060 insertion (ins) types (ins/deletion and ins/ins) were overrepresented in urolithiasis patients compared with the controls [odds ratio (OR), 1.55; 95% confidence interval (CI), 1.08–2.22]. In the stratified analysis, the increased risk was more evident among younger subjects (adjusted OR, 1.68; 95% CI, 1.01–2.81), females (2.15; 1.14–4.08), overweight subjects (1.80; 1.07–3.05), normotensive subjects (2.48; 1.02–6.00), abnormal blood sugar subjects (1.58; 1.08–2.30), smokers (1.63; 1.02–2.60), and ever-drinkers (1.98; 1.10–3.60).. These findings revealed that the OPN rs11439060 polymorphism may act as genetic biomarker for the detection of high-risk nephrolithiasis patients.

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“…Genetics has been shown to play an important role in the development of RA through a series of large genome-wide association studies (GWAS) (1-3), but its potential role in determining disease course following diagnosis has been less rigorously studied, even though radiographic outcome has been proposed to be partially genetically determined (4). Indeed, while many studies have reported genetic associations with outcome, virtually none of these outside the HLA reach genome-wide significance, nor have the associations always been replicated (5)(6)(7)(8)(9).…”

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Association Between Genetic Variation in FOXO3 and Reductions in Inflammation and Disease Activity in Inflammatory Polyarthritis

Viatte

Lee

et al. 2016

Arthritis & Rheumatology

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ObjectiveGenetic variation in FOXO3 (tagged by rs12212067) has been associated with a milder course of rheumatoid arthritis (RA) and shown to limit monocyte‐driven inflammation through a transforming growth factor β1–dependent pathway. This genetic association, however, has not been consistently observed in other RA cohorts. We sought to clarify the contribution of FOXO3 to prognosis in RA by combining detailed analysis of nonradiographic disease severity measures with an in vivo model of arthritis.MethodsCollagen‐induced arthritis, the most commonly used mouse model of RA, was used to assess how Foxo3 contributes to arthritis severity. Using clinical, serologic, and biochemical methods, the arthritis that developed in mice carrying a loss‐of‐function mutation in Foxo3 was compared with that which occurred in littermate controls. The association of rs12212067 with nonradiographic measures of RA severity, including the C‐reactive protein level, the swollen joint count, the tender joint count, the Disease Activity Score in 28 joints, and the Health Assessment Questionnaire score, were modeled longitudinally in a large prospective cohort of patients with early RA.ResultsLoss of Foxo3 function resulted in more severe arthritis in vivo (both clinically and histologically) and was associated with higher titers of anticollagen antibodies and interleukin‐6 in the blood. Similarly, rs12212067 (a single‐nucleotide polymorphism that increases FOXO3 transcription) was associated with reduced inflammation, both biochemically and clinically, and with lower RA activity scores.ConclusionConsistent with its known role in restraining inflammatory responses, FOXO3 limits the severity of in vivo arthritis and, through genetic variation that increases its transcription, is associated with reduced inflammation and disease activity in RA patients, effects that result in less radiographic damage.

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SPP1rs9138 variant contributes to the severity of radiological damage in anti-citrullinated protein autoantibody-negative rheumatoid arthritis

Abstract: The SPP1 rs9138 variant contributes to joint damage progression in ACPA-negative RA.

Cited by 14 publications

References 19 publications

Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis

Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis

Association between OPN genetic variations and nephrolithiasis risk

Association Between Genetic Variation in FOXO3 and Reductions in Inflammation and Disease Activity in Inflammatory Polyarthritis

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