1. Signal transducer and activator of transcription and the risk of rheumatoid arthritis and thyroid autoimmune disorders
- Author
-
Ben Hamad, M., Cornells, F., Hamdi Mbarek, Chabchoub, G., Marzouk, S., Bahloul, Z., Rebai, A., Fakhfakh, F., Ayadi, H., Petit-Teixeira, E., Maalej, A., Laboratoire de Physiologie-Biologie du Sport, Université d'Auvergne - Clermont-Ferrand I (UdA), Institut de recherches sur la catalyse et l'environnement de Lyon (IRCELYON), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Laboratoire de recherche européen pour la polyarthrite rhumatoïde (GenHotel), Université d'Évry-Val-d'Essonne (UEVE), Laboratoire des Matériaux Ferroélectriques, Faculté des Sciences de Sfax, Université de Sfax - University of Sfax-Université de Sfax - University of Sfax, Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), and HAL, Univ Évry
- Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics - Abstract
International audience; Objective: The signal transducer and activator of transcription 4 (STAT4) gene localised on chromosome 2q32.2-q323 is known to be essential for mediating responses to interleukin 12 in lymphocytes and regulating the differentiation of T helper cells. The aim of this study was to investigate the role of the STAT4 gene in susceptibility to rheumatoid arthritis (RA) and autoimmune thyroid diseases (AITDs) in Tunisian case control studies. Methods: Genotyping of STAT4 rs7574865 single nucleotide polymorphism (SNP) was performed in 140 patients affected with RA, 159 patients affected with AITDs and 200 healthy controls using TaqMan® allelic discrimination assay. Data were analysed by χ2-test, genotype relative risk (GRR) and odds ratio (OR). Results: Our results revealed that frequencies of the T allele and the T/T genotype were significantly higher among RA patients compared to controls (p=0.008; p-0.003, respectively). However, no significant associations with the risk of autoimmune thyroid diseases were detected. Moreover, the stratification of RA patients subgroups revealed a significant association of both T allele and T/T genotype in patients presented erosion (p=0.003; p=0.004, respectively) as well as anti-cyclic peptides-negative RA (ACPA) (p-0.002; p=0.0003, respectively). Furthermore, genotypic association was found according to the absence of rheumatoid factor antibody (RF) (p=0.0014). But, no significant differences in allele and genotype frequencies of STAT4 rs7574865 polymorphism were detected according to the presence of another autoimmune disease, nodules and in HLA-DRB1*04 and HLA-DRB1*0404 positive subgroups. Conclusion: Our results support involvement of the STAT4 gene in the genetic susceptibility to RA but not to AITDs in the Tunisian population. © Copyright Clinical and Experimental Rheumatology 2011.