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

Edité par CCSD ; BioMed Central -

International audience. 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

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