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Journal articles
Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis
Maria Arismendi
1
Matthieu Giraud
1
Nadira Ruzehaji
1
Philippe Dieudé
2, 3
Eugenie Koumakis
1
Barbara Ruiz
1
Paolo Airo
4
Daniele Cusi
5, 6
Marco Matucci-Cerinic
7
Erika Salvi
8
Giovanna Cuomo
7
Eric Hachulla
9
Elisabeth Diot
10
Paola Caramaschi
11
Valeria Riccieri
12
Jérôme Avouac
1
Cristiane Kayser
7
Yannick Allanore
1, 13, *
*
Corresponding author
Maria Arismendi 1
Author
Matthieu Giraud 1
Author
Nadira Ruzehaji 1
Author
Philippe Dieudé 2, 3
Author
Elisabeth Diot 10
Author
Paola Caramaschi 11
Author
Valeria Riccieri 12
Author
Jérôme Avouac 1
Author
Cristiane Kayser 7
Author
Yannick Allanore 1, 13
Correspondent author
1
IC UM3 (UMR 8104 / U1016) - Institut Cochin (22 rue Méchain, 75014 Paris - France)
- UPD5 - Université Paris Descartes - Paris 5 : UM 3 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1016 (101, rue de Tolbiac, 75013 Paris - France)
- CNRS - Centre National de la Recherche Scientifique : UMR 8104 (France)
2
Immunopathologie rénale, récepteurs et inflammation (Faculte de Medecine Xavier Bichat 16, Rue Henri Huchard 75870 PARIS CEDEX 18 - France)
- UPD7 - Université Paris Diderot - Paris 7 (5 rue Thomas-Mann - 75205 Paris cedex 13 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U699 (101, rue de Tolbiac, 75013 Paris - France)
5
Department of Medicine, Surgery, and Dentistry (San Paolo School of Medicine - Italy)
- University of Milano (France)
7
Azienda Ospedaliera Careggi (3, Lg. Brambilla - 50134 Firenze - Italy)
- Largo Giovanni Alessandro Brambilla (France)
8
Department of Biology and Biotechnology "Charles Darwin" (Italy)
- Institut Pasteur, Fondation Cenci Bolognetti - Istituto Pasteur Italia, Fondazione Cenci Bolognetti (Université de Rome La Sapienza 5 Place Aldo Moro 00185 Rome - Italy)
- RIIP - Réseau International des Instituts Pasteur (25, rue du Dr Roux 75724 Paris Cedex 15 - France)
- Università degli Studi di Roma "La Sapienza" [Rome] (Piazzale Aldo Moro 5, 00185 Roma - Italy)
9
EA 2686 - Laboratoire d'Immunologie (1, place de Verdun 59045 Lille Cédex - France)
- Université de Lille, Droit et Santé : EA2686 (42 rue Paul Duez 59000 Lille - France)
10
Service de Médecine Interne (2 Boulevard Tonnellé 37000 Tours - France)
- Hôpital Bretonneau (France)
11
Rheumatology Unit (Verona - Italy)
- Università degli Studi di Verona (Via dell'Artigliere, 8, 37129 Verona VR - Italy)
12
Division of Rheumatology (Department of Internal Medicine and Medical Specialities, Rome - France)
- Università degli Studi di Roma "La Sapienza" [Rome] (Piazzale Aldo Moro 5, 00185 Roma - Italy)
13
Service de rhumatologie [CHU Cochin] (27 rue du Faubourg Saint-Jacques 75014 Paris - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- CHU Cochin [AP-HP] (27 Rue du Faubourg Saint-Jacques 75014 Paris - France)
Abstract : Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis Abstract Introduction: Systemic sclerosis (SSc) and primary biliary cirrhosis (PBC) are rare polygenic autoimmune diseases (AIDs) characterized by fibroblast dysfunction. Furthermore, both diseases share some genetic bases with other AIDs, as evidenced by autoimmune gene pleiotropism. The present study was undertaken to investigate whether single-nucleotide polymorphisms (SNPs) identified by a large genome-wide association study (GWAS) in PBC might contribute to SSc susceptibility. Methods: Sixteen PBC susceptibility SNPs were genotyped in a total of 1,616 patients with SSc and 3,621 healthy controls from two European populations (France and Italy). Results: We observed an association between PLCL2 rs1372072 (odds ratio (OR) = 1.22, 95% confidence interval (CI) 1.12 to 1.33, P adj = 7.22 × 10
Document type :
Journal articles
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https://www.hal.inserm.fr/inserm-01160355
Contributor : Mireille Bos <>
Submitted on : Friday, June 5, 2015 - 11:01:24 AM
Last modification on : Wednesday, August 19, 2020 - 11:17:04 AM
Long-term archiving on: : Tuesday, April 25, 2017 - 6:31:17 AM
Contributor : Mireille Bos <>
Submitted on : Friday, June 5, 2015 - 11:01:24 AM
Last modification on : Wednesday, August 19, 2020 - 11:17:04 AM
Long-term archiving on: : Tuesday, April 25, 2017 - 6:31:17 AM
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13075_2015_Article_572.pdf
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Identifiers
- HAL Id : inserm-01160355, version 1
- DOI : 10.1186/s13075-015-0572-y
- PUBMED : 25880423
Collections
CNRS | UNIV-PARIS7 | BICHAT | UNIV-PARIS5 | USPC | RIIP | UP-SANTE
Citation
Maria Arismendi, Matthieu Giraud, Nadira Ruzehaji, Philippe Dieudé, Eugenie Koumakis, et al.. Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis. Arthritis Research and Therapy, BioMed Central, 2015, 17 (1), pp.71. ⟨10.1186/s13075-015-0572-y⟩. ⟨inserm-01160355⟩
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