ACR Meeting Abstracts

ACR Meeting Abstracts

Abstract Number: 67

Polymorphisms of ERAP1, IL23R and TRAILR1 Are Associated with MRI-Sacroiliitis in Early Axial Spondyloarthritis: Data from the French DESIR Cohort

Cécile Luxembourger1, Yannick Degboé2, Alain Cantagrel3, Delphine Nigon4, Pascal Claudepierre5, Arnaud CONSTANTIN6 and Adeline Ruyssen-Witrand7, 1Rheumatology, Centre Hospitalier Universitaire, Toulouse Purpan, Toulouse, France, 2Rheumatology, Rheumatology Center, Purpan University Hospital, Toulouse, France, 3Rheumatology, INSERM CNRS UMR 1043, Paul Sabatier University Toulouse, Purpan Teaching Hospital, Toulouse, France, 4CHU Purpan, Toulouse, France, 5Hôpital Henri Mondor, Créteil, France, 6Rheumatology, CHU Purpan - Hôpital Pierre-Paul Riquet, Toulouse, France, 7Rheumatology Center, Purpan University Hospital, Toulouse, France

Meeting: 2016 ACR/ARHP Annual Meeting

Date of first publication: September 28, 2016

Keywords: ,

Session Information

Date: Sunday, November 13, 2016

Title: Genetics, Genomics and Proteomics - Poster I

Session Type: ACR Poster Session A

Session Time: 9:00AM-11:00AM

Polymorphisms of ERAP1, IL23R and TRAILR1 are associated With MRI-Sacroiliitis in Early Axial Spondyloarthritis: Data from the French DESIR Cohort

Background/Purpose: Spondyloarthritis (SpA) is a highly heritable disease, often affecting the sacroiliac joints. Single nucleotide polymorphisms on ERAP1, IL23R and TRAIL-R1(or Tumor Necrosis Factor-related Apoptosis-inducing Ligand Receptor 1) are associated with SpA susceptibility and structural changes on sacroiliac joints on radiographs. The aim of this study was to test the association between these polymorphisms and the presence of sacroiliitis on magnetic resonance imagery (MRI), in a French early SpA cohort (DESIR: Devenir des Spondyloarthrites Récentes).

Methods: All patients included in the DESIR cohort fulfilling the Assessment of SpondyloArthritis international Society (ASAS) diagnosis criteria for axial SpA, AMOR or European Spondyloarthropathy Study Group (ESSG) criteria, were included in this study. All MRI were scored by two experienced readers, according to Spondyloarthritis Research Consortium of Canada (SPARCC) score and ASAS definition. Genotyping: Three SNPs on IL23R (rs1004819, rs10889677, rs2201841), 4 SNPs on ERAP1 (rs17482078, rs10050860, rs27434, rs2287987), 1 SNP on TRAILR1 (rs20575) were genotyped using KasPar method (LGC-genomics, UK). The haplotype of the 3 SNPs on IL23R and the 4 SNPs on ERAP1were built with Plink software. Statistics: Univariate analyses using a Chi square test and a Wilcoxon tests were performed to assess whether a haplotype of ERAP1, IL23R and a genotype of the SNP on TRAILR1were associated with MRI sacroiliitis or SPARCC score respectively.

Results: Among the 708 patients included in the DESIR cohort, 645 fulfilled at least one of the criteria set for SpA. Among them, 403 (62,6%) patients were HLA-B27 positive. 214 patients (34.2%) had a MRI sacroiliitis and 161 (25%) patients had SPARCC MRI sacroiliitis score higher than 4. The haplotype TAG of IL23R was associated with MRI sacroiliitis with SPARCC criteria (SPARCC median=0.75 [0-8] in TAG patients versus 0[0-2] in non-TAG patients, p=0.0021), while rs20575 on TRAILR1 was associated with MRI sacroiliitis using SPARCC criteria (SPARCC median=1[0-6.5] in G allele carriers versus 0[0-2] in G allele non-carriers, p=0.0046). These associations were stronger in HLA-B27 positive patients (SPARCC median in TAG carriers of IL23R = 1[0-10.5] versus 0[0-4] in TAG non-carriers, p=0.0058; in G allele of TRAILR1 carriers: 1.5[0-10.5], versus 0[0-4] in G allele non-carriers, p=0.0044). The haplotype CCAT of ERAP1 was associated with MRI sacroiliitis with ASAS criteria (47.1% of patients with sacroiliitis in CCAT carriers, versus 30.4% in non-carriers, p=0.046). Stratification on the presence of HLA-B27 enhanced this association (60% of patients with sacroiliitis in CCAT carriers, versus 31.6% in non-carriers in HLA-B27positive patients, p = 0.0035).

Conclusion: In the DESIR cohort, ERAP1, TRAILR1 and IL23R polymorphisms were associated with the presence of MRI sacroiliitis in SpA, particularly in HLA-B27patients. This work received an institutional support by the French Society of rheumatology.

Disclosure: C. Luxembourger, None; Y. Degboé, None; A. Cantagrel, None; D. Nigon, None; P. Claudepierre, None; A. CONSTANTIN, None; A. Ruyssen-Witrand, None.

To cite this abstract in AMA style:

Luxembourger C, Degboé Y, Cantagrel A, Nigon D, Claudepierre P, CONSTANTIN A, Ruyssen-Witrand A. Polymorphisms of ERAP1, IL23R and TRAILR1 Are Associated with MRI-Sacroiliitis in Early Axial Spondyloarthritis: Data from the French DESIR Cohort [abstract]. Arthritis Rheumatol. 2016; 68 (suppl 10). https://acrabstracts.org/abstract/polymorphisms-of-erap1-il23r-and-trailr1-are-associated-with-mri-sacroiliitis-in-early-axial-spondyloarthritis-data-from-the-french-desir-cohort/. Accessed .

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