Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases

Mathias Chamaillard; Dana Philpott; Stephen E. Girardin; Habib Zouali; Suzanne Lesage; Fabrice Chareyre; The Hung Bui; Marco Giovannini; Ulrich Zaehringer; Virginie Penard-Lacronique; Philippe J. Sansonetti; Jean Pierre Hugot; Gilles Thomas

doi:10.1073/pnas.0530276100

Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases

Mathias Chamaillard, Dana Philpott, Stephen E. Girardin, Habib Zouali, Suzanne Lesage, Fabrice Chareyre, The Hung Bui, Marco Giovannini, Ulrich Zaehringer, Virginie Penard-Lacronique, Philippe J. Sansonetti, Jean Pierre Hugot, Gilles Thomas

Résultats de recherche: Contribution à un journal › Article › Revue par des pairs

288 Citations (Scopus)

Résumé

CARD15 is a major susceptibility gene for a frequent multifactorial chronic inflammatory bowel disorder, Crohn disease (CD). By using NF-KB activation assays, the cytosolic CARD15 was shown to efficiently detect bacterial peptidoglycan (PGN), reminiscent of the PGN recognition protein surveillance mechanism in Drosophila. The 3 CD-associated variants and 13 additional variants carried by CD patients demonstrated impaired PGN-dependent response revealing null, hypomorphic, or dominant-negative properties. Quantitative parametrization of this response, computed from the patients' CARD15 genotypes, was predictive of several variable CD manifestations. In contrast, CARD15 alleles associated with Blau's syndrome promoted PGN-independent NF-κB activation, an observation that accounts for the minimal microbial input in the etiology of this dominant, monogenic inflammatory disorder affecting solely aseptic sites.

langue originale	Anglais
Pages (de - à)	3455-3460
Nombre de pages	6
journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	100
Numéro de publication	6
Les DOIs	https://doi.org/10.1073/pnas.0530276100
état	Publié - 18 mars 2003

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10.1073/pnas.0530276100

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Chamaillard, M., Philpott, D., Girardin, S. E., Zouali, H., Lesage, S., Chareyre, F., Bui, T. H., Giovannini, M., Zaehringer, U., Penard-Lacronique, V., Sansonetti, P. J., Hugot, J. P., & Thomas, G. (2003). Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proceedings of the National Academy of Sciences of the United States of America, 100(6), 3455-3460. https://doi.org/10.1073/pnas.0530276100

@article{a38e7f7875c44f3aa4598013bb0fe559,

title = "Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases",

abstract = "CARD15 is a major susceptibility gene for a frequent multifactorial chronic inflammatory bowel disorder, Crohn disease (CD). By using NF-KB activation assays, the cytosolic CARD15 was shown to efficiently detect bacterial peptidoglycan (PGN), reminiscent of the PGN recognition protein surveillance mechanism in Drosophila. The 3 CD-associated variants and 13 additional variants carried by CD patients demonstrated impaired PGN-dependent response revealing null, hypomorphic, or dominant-negative properties. Quantitative parametrization of this response, computed from the patients' CARD15 genotypes, was predictive of several variable CD manifestations. In contrast, CARD15 alleles associated with Blau's syndrome promoted PGN-independent NF-κB activation, an observation that accounts for the minimal microbial input in the etiology of this dominant, monogenic inflammatory disorder affecting solely aseptic sites.",

author = "Mathias Chamaillard and Dana Philpott and Girardin, {Stephen E.} and Habib Zouali and Suzanne Lesage and Fabrice Chareyre and Bui, {The Hung} and Marco Giovannini and Ulrich Zaehringer and Virginie Penard-Lacronique and Sansonetti, {Philippe J.} and Hugot, {Jean Pierre} and Gilles Thomas",

year = "2003",

month = mar,

day = "18",

doi = "10.1073/pnas.0530276100",

language = "English",

volume = "100",

pages = "3455--3460",

journal = "Proceedings of the National Academy of Sciences of the United States of America",

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Chamaillard, M, Philpott, D, Girardin, SE, Zouali, H, Lesage, S, Chareyre, F, Bui, TH, Giovannini, M, Zaehringer, U, Penard-Lacronique, V, Sansonetti, PJ, Hugot, JP & Thomas, G 2003, 'Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases', Proceedings of the National Academy of Sciences of the United States of America, VOL. 100, Numéro 6, p. 3455-3460. https://doi.org/10.1073/pnas.0530276100

Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. / Chamaillard, Mathias; Philpott, Dana; Girardin, Stephen E. et al.
Dans: Proceedings of the National Academy of Sciences of the United States of America, Vol 100, Numéro 6, 18.03.2003, p. 3455-3460.

Résultats de recherche: Contribution à un journal › Article › Revue par des pairs

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AU - Chamaillard, Mathias

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AU - Girardin, Stephen E.

AU - Zouali, Habib

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AU - Chareyre, Fabrice

AU - Bui, The Hung

AU - Giovannini, Marco

AU - Zaehringer, Ulrich

AU - Penard-Lacronique, Virginie

AU - Sansonetti, Philippe J.

AU - Hugot, Jean Pierre

AU - Thomas, Gilles

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