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Volume 13 Supplement 1

8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases

Over representation of the A allele in the IL23R rs1004819 polymorphism in M694V homozygote non-responsive FMF patients

Pediatric Rheumatology volume 13, Article number: P87 (2015) Cite this article

Objectives

Recent studies have shown that interleukin-23 receptor (IL23R) polymorphisms confer susceptibility to ankylosing spondylitis, psoriasis, psoriatic arthritis and Crohn's disease. The A allele of rs1004819 was found in a significantly higher frequency among patients suffering from these diseases compared to controls. We aimed to determine the affect of rs1004819 in M694V homozygote FMF patients.

Methods

We typed 59 M694V homozygote FMF patients for the rs1004819 polymorphism, 27 of whom were defined as non responders to colchicine treatment. In addition we typed 57 ethnically matched controls.

Results

We found an over representation of the A allele in the non responders (A-29, G-25) as compared to the controls (A-33, G-77) (p=0.01), while a similar frequency was found between the responders (A-24, G-40) and the controls (p= 0.3).

Conclusions

These results suggest that IL23 and its pathways are involved in the FMF inflammatory response. This association may provide new insights and treatment possibilities for FMF patients who do not respond to colchicine.

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Authors and Affiliations

  1. Sheba Medical Center, Ramat Gan, Israel

    E Pras, S Dahan, A Epstein, I Ben Zvi, D Marek-Yagel, Y Shinar, M Lidar & A Livneh

  2. Tel Aviv University, Tel Aviv, Israel

    E Pras, S Dahan, A Epstein, I Ben Zvi, M Lidar & A Livneh

Authors
  1. E Pras
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  2. S Dahan
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  3. A Epstein
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  4. I Ben Zvi
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  5. D Marek-Yagel
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  6. Y Shinar
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  7. M Lidar
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  8. A Livneh
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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Cite this article

Pras, E., Dahan, S., Epstein, A. et al. Over representation of the A allele in the IL23R rs1004819 polymorphism in M694V homozygote non-responsive FMF patients. Pediatr Rheumatol 13 (Suppl 1), P87 (2015). https://doi.org/10.1186/1546-0096-13-S1-P87

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  • DOI: https://doi.org/10.1186/1546-0096-13-S1-P87

Keywords

Pediatric Rheumatology

ISSN: 1546-0096