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; Matthieu Giraud; Nadira Ruzehaji; Philippe Dieudé; Eugenie Koumakis; Barbara Ruiz; Paolo Airo; Daniele Cusi; Marco Matucci-Cerinic; Erika Salvi; Giovanna Cuomo; Eric Hachulla; Elisabeth Diot; Paola Caramaschi; Valeria Riccieri; Jérôme Avouac; Cristiane Kayser; Yannick Allanore

doi:10.1186/s13075-015-0572-y

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, *}

* Auteur correspondant

1 UM3 (UMR 8104 / U1016) - Institut Cochin

2 Immunopathologie rénale, récepteurs et inflammation

3 Service de Rhumatologie

4 Rheumatology and Clinical Immunology

5 Department of Medicine, Surgery, and Dentistry

6 Genomics and Bioinformatics Platform

7 Azienda Ospedaliera Careggi

8 Department of Biology and Biotechnology "Charles Darwin"

9 EA 2686 - Laboratoire d'Immunologie

10 Service de Médecine Interne

11 Rheumatology Unit

12 Division of Rheumatology

13 Service de rhumatologie [CHU Cochin]

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

Type de document :

Article dans une revue

Arthritis Research and Therapy, BioMed Central, 2015, 17 (1), pp.71. 〈10.1186/s13075-015-0572-y〉

Domaine :

Sciences du Vivant [q-bio] / Biochimie, Biologie Moléculaire

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http://www.hal.inserm.fr/inserm-01160355
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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

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