ACR Meeting Abstracts

ACR Meeting Abstracts

Abstract Number: 597

Investigating the Genetic Association Between ERAP1 and Spondyloarthritis

Amir Kadi1, Brigitte Izac2, Roula Said-Nahal3, Ariane Leboime4, Kurt L. de Vlam5, Dirk Elewaut6, Gilles Chiocchia2 and Maxime A. Breban3, 1Institut Cochin - Université Paris Descartes - INSERM U1016 - CNRS (UMR 8104), Paris, France, 2Immunology and Hematology Department, Institut Cochin - INSERM U1016 - CNRS (UMR 8104), Paris, France, 3Rheumatology Division, Ambroise Paré Hospital (AP-HP), and Versailles Saint Quentin en Yvelines University, Boulogne-Billancourt, France, 4Rheumatology Division, Ambroise-Paré Hospital AP-HP, Boulogne-Billancourt, France, 5Rheumatology, University Hospitals Leuven, Leuven, Belgium, 6Rheumatology, Department of Rheumatology Ghent University Hospital, Ghent, Belgium

Meeting: 2012 ACR/ARHP Annual Meeting

Keywords: ,

Session Information

Title: Spondylarthritis and Psoriatic Arthritis - Pathogenesis, Etiology

Session Type: Abstract Submissions (ACR)

Background/Purpose:  A robust association was recently identified between polymorphisms in the non-major histocompatibility complex gene ERAP1 and ankylosing spondylitis (AS) in several populations. The aim of the current study was to determine the level of association of ERAP1 polymorphisms with spondyloarthritis (SpA) in French/Belgian population with a particular attention to genotype-phenotype correlations.

Methods:  We studied 734 independent SpA cases and 632 controls from 2 European cohorts. Five single nucleotide polymorphisms (SNPs), rs27044, rs17482078, rs10050860, rs30187 and rs2287987 were genotyped and case-control association analyses were carried using PLINK. Linkage disequilibrium and haplotypes were estimated with Haploview. Analysis was first carried in SpA as a whole group, and then separately in AS and non-radiographic SpA (non-AS) patients.

Results: Consistent with previous studies conducted in AS, rs30187 was the most significantly associated SNP with SpA (P=0.008 in the French and P=6.46×10−4 in the Belgian cohorts). In the combined cohort, this SNP was associated with both AS and non-AS (PCombined=3.9×10−5 and PCombined=0.005, respectively). A similar trend was observed with other SNPs. The rs17482078/rs10050860/rs30187-CCT haplotype was significantly associated with increased risk of SpA in both cohorts (Pcombined=9.08×10−4), including AS and non-AS (Pcombined =6.16×10−4 and Pcombined =0.049, respectively), whereas the -TTC haplotype was associated with reduced risk of SpA, including AS and non-AS (Pcombined=2.36×10−7, Pcombined=5.69×10−6 and Pcombined=2.13×10−4, respectively).

Conclusion: This is the first study to show an association between several polymorphisms located in ERAP1 and SpA as a whole. Our findings demonstrate consistent association of the same SNPs and haplotypes with both AS and non-AS subtypes of SpA.

Disclosure:

A. Kadi,
None;

B. Izac,
None;

R. Said-Nahal,
None;

A. Leboime,
None;

K. L. de Vlam,
None;

D. Elewaut,
None;

G. Chiocchia,
None;

M. A. Breban,
None.

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