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Evaluation of interleukin 13 polymorphisms in systemic sclerosis

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Abstract

Systemic sclerosis (SSc) is a multisystem disease of unknown etiology. It is characterized by excessive cutaneous and visceral fibrosis, damage to small blood vessels, and production of autoantibodies. Interleukin-13 (IL-13) has been shown to be involved in abnormal fibrosis in other diseases. Therefore, we have evaluated its possible involvement in SSc. We analyzed four IL13 gene polymorphisms, rs1800925 (IL13-1055), rs20541 (Arg130Gln), rs847, and rs2243204 in 107 unrelated SSc patients (40 patients having diffuse cutaneous form and 67 patients having limited cutaneous form) and in 170 controls. All subjects were Caucasians. In the total patient population and in the diffuse cutaneous subset, we observed an association between two IL13 polymorphisms, IL13 rs1800925 (IL13-1055), and IL13 rs2243204, and disease (p=0.03–0.04). The IL13 rs2243204T allele was more common in SSc patients (p=0.01, OR=2.3 CI 1.21–4.38) and in the diffuse cutaneous form (p=0.01, OR=2.95, CI 1.35–6.49) than in control subjects. Our result supports the suggestion that polymorphisms in IL13 are associated to SSc and skin fibrosis process. However, further studies on larger and independent population and functional analyses are needed to confirm these findings.

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Acknowledgements

We thank Dr Howard Cann for providing the CEPH reference population DNAs. We thank Pascale David, Ruth Zbili and Anne-Marie Dombey, all medical doctors working in the “Etablissement Français du Sang-Alpes-Méditerranée” for providing healthy blood donors samples. This work was financially supported by INSERM, the Association des Sclérodermiques de France (ASF) with the Groupe Français de Recherche sur la Sclérodermie (GFRS) and by the Assistance Publique-Hôpitaux de Marseille (APHM) (AORC 2004).

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Authors and Affiliations

  1. Laboratoire d’Immunologie et de Génétique des Maladies Parasitaires, UMR 399 INSERM, Université de la Méditerranée, Faculté de Médecine, 13005, Marseille, France

    Brigitte Granel, Christophe Chevillard, Violaine Arnaud, Sandrine Cabantous, Sandrine Marquet & Alain Dessein

  2. Service de Médecine Interne, Hôpital Nord, AP-HM, Université de la Méditerranée, 13015, Marseille, France

    Brigitte Granel & Yves Frances

  3. Service de Rhumatologie A, Faculté de Médecine, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Descarte, 75014, Paris, France

    Yannick Allanore & André Kahan

  4. Service de Médecine Interne, Hôpital de La Timone,Assistance Publique-Hôpitaux de Marseille (AP-HM), Université de la Méditerranée, 13005, Marseille, France

    Pierre-Jean Weiller

  5. Service de Médecine Interne, Hôpital de La Conception, AP-HM, 13005, Marseille, France

    Jean-Marc Durand & Jean-Robert Harlé

  6. Service de Médecine Interne, Centre Hospitalier Lyon-Sud, 69495, Pierre-Benite, France

    Claire Grange

  7. Service de Dermatologie, Hôpital Nord, AP-HM, Université de la Méditerranée, 13015, Marseille, France

    Philippe Berbis

  8. Equipe Bio-Mathématiques et Informatique Médicale, LIF-UMR 6166-CNRS/Université de la Méditerranée, Faculté de Médecine, 13005, Marseille, France

    Jean Gaudart

  9. Site Marseille, EFS-Alpes-Méditerranée, 149 Boulevard Baille, 13005, Marseille, France

    Philippe de Micco

  10. Laboratoire d’Immunologie et de Génétique des Maladies Parasitaires, UMR 399 INSERM, Université de la Méditerranée, Faculté de Médecine de La Timone, 27 boulevard Jean Moulin, 13385, Marseille, Cedex 05, France

    Brigitte Granel

  11. INSERM U781, Hopital Necker, 75015, Paris, France

    Yannick Allanore

Authors
  1. Brigitte Granel
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  2. Christophe Chevillard
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  3. Yannick Allanore
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  4. Violaine Arnaud
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  5. Sandrine Cabantous
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  6. Sandrine Marquet
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  7. Pierre-Jean Weiller
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  8. Jean-Marc Durand
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  9. Jean-Robert Harlé
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  10. Claire Grange
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  11. Yves Frances
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  12. Philippe Berbis
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  13. Jean Gaudart
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  14. Philippe de Micco
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  15. André Kahan
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  16. Alain Dessein
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Corresponding author

Correspondence to Brigitte Granel.

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Granel, B., Chevillard, C., Allanore, Y. et al. Evaluation of interleukin 13 polymorphisms in systemic sclerosis. Immunogenetics 58, 693–699 (2006). https://doi.org/10.1007/s00251-006-0135-0

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  • DOI: https://doi.org/10.1007/s00251-006-0135-0

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