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Analysis of the NOD2/CARD15 Gene in Patients Affected with the Aseptic Abscesses Syndrome with or without Inflammatory Bowel Disease

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Abstract

Objectives

NOD2/CARD15 is a susceptibility gene for Crohn’s disease (CD). It is also involved, via different mutations, in the Blau syndrome. The syndrome of aseptic abscesses (AA) is characterized by visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly with corticosteroids. It is associated in two cases out of three with inflammatory bowel disease (IBD), and in particular with CD. We wanted to assess if changes on gene NOD2/CARD15 could contribute to the development of AA in patients with and without IBD.

Methods

Seventeen unrelated patients with AA from the French national register were genotyped for c.802C>T (p.Pro268Ser) and the three main CD associated variants, c.2104C>T (p.Arg702Trp), c.2722G>C (p.Gly908Arg) and c.3019_3020insC (p.Leu1007fsX1008), and 16 were screened for the 11 coding exons of NOD2/CARD15.

Results

The main variants associated with CD were found at a similar frequency in patients free of IBD and in those with CD. There was no significant difference in the main variants between patients with CD and those without IBD in our study and patients with CD and controls, respectively, from a large study of an ethnically similar population. No rare variant was found. A significant association between carriers of the silent variant c.1377 C>T and markers of severity of AA was observed.

Conclusions

These results suggest that the emergence of AA is not closely related to gene NOD2/CARD15. NOD2/CARD15 and other susceptibility genes might enhance the expression of AA as the result of a combination of polymorphisms.

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Acknowledgments

We are particularly grateful to the patients with AA and the physicians who took part in this study, and to Esteban Louis for technical assistance and Jeffrey Watts for help in preparing the English manuscript.

Author information

Authors and Affiliations

  1. Inserm, U384, Clermont-Ferrand, 63001, France

    Marc François Jean André, Bernard Dastugue & Isabelle Creveaux

  2. CHU Clermont-Ferrand, Hôpital Gabriel Montpied, Service de Médecine Interne, CHU de Clermont-Ferrand, BP 69, Clermont-Ferrand Cedex 1, 63003, France

    Marc François Jean André & Olivier Aumaître

  3. Assistance Publique – Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Service de Médecine Interne, Paris, 75651, France

    Jean-Charles Piette

  4. Assistance Publique – Hôpitaux de Paris, Hôpital Tenon, Service de Médecine Interne, Paris, 75970, France

    Gilles Grateau

  5. Université Paris 6, Paris, 75005, France

    Gilles Grateau

  6. CHU Clermont-Ferrand, Faculté de Médecine, Service de Biochimie Médicale et Biologie Moléculaire, Clermont-Ferrand, 63003, France

    Marie-Céleste Cardoso, Bernard Dastugue & Isabelle Creveaux

  7. Université Clermont 1, UFR Médecine, Laboratoire de Biostatistiques, Télématique et Traitement d’Image, Clermont-Ferrand, 63001, France

    Lemlih Ouchchane

  8. CHU Clermont-Ferrand, Département de Santé Publique, Unité de Biostatistiques, Télématique et Traitement d’Image, Clermont-Ferrand, 63003, France

    Lemlih Ouchchane

  9. CHU de Clermont-Ferrand, Service d’Anatomie et Cytologie Pathologiques, Hôpital Gabriel Montpied, Clermont-Ferrand, 63003, France

    Jean-Louis Kémény

  10. Laboratoire de Biochimie Médicale, Université Clermont 1, UFR Médecine, Clermont-Ferrand, 63001, France

    Bernard Dastugue & Isabelle Creveaux

  11. Assistance Publique – Hôpitaux de Paris, Hôpital Cochin, Laboratoire de Biochimie et Génétique Moléculaires, Paris, 75679, France

    Marc Delpech

  12. Institut Cochin de Génétique Moléculaire, Hôpital Cochin, Paris, 75014, France

    Marc Delpech

  13. Université Paris Descartes, Paris, 75270, France

    Marc Delpech

Authors
  1. Marc François Jean André
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  2. Olivier Aumaître
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  3. Jean-Charles Piette
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  4. Gilles Grateau
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  5. Marie-Céleste Cardoso
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  6. Lemlih Ouchchane
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  7. Jean-Louis Kémény
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  8. Bernard Dastugue
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  9. Marc Delpech
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  10. Isabelle Creveaux
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Corresponding author

Correspondence to Marc François Jean André.

Additional information

This work was supported by Grant PHRC 2004/CHU Clermont-Ferrand. Marc André is a recipient of a Contrat d’Interface Inserm-CHU Clermont-Ferrand.

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André, M.F.J., Aumaître, O., Piette, JC. et al. Analysis of the NOD2/CARD15 Gene in Patients Affected with the Aseptic Abscesses Syndrome with or without Inflammatory Bowel Disease. Dig Dis Sci 53, 490–499 (2008). https://doi.org/10.1007/s10620-007-9871-8

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  • DOI: https://doi.org/10.1007/s10620-007-9871-8

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