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http://dx.doi.org/10.1016/j.gene.2018.01.073 | DOI Listing |
Free Radic Biol Med
December 2024
INSERM-U1149, CNRS-ERL8252, Université de Paris-Cité, Centre de Recherche sur l'Inflammation, Laboratoire d'Excellence Inflamex, DHU FIRE, Faculté de Médecine, Site Xavier Bichat, Paris, France. Electronic address:
Neutrophils are essential for host defense against infections, but they also play a key role in acute and chronic inflammation. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes the lymphoid-specific tyrosine phosphatase (Lyp) and a genetic single-nucleotide polymorphism of PTPN22 rs2476601 (R620W) has been associated with several human autoimmune diseases, including rheumatoid arthritis (RA). Here, we investigated the role of Lyp in TNFα-induced priming of neutrophil ROS production and in the development of arthritis using new selective Lyp inhibitors.
View Article and Find Full Text PDFThis study offers insights into the genetic and biological connections between nine common metabolic diseases using data from genome-wide association studies. Our goal is to unravel the genetic interactions and biological pathways of these complex diseases, enhancing our understanding of their genetic architecture. We employed a range of advanced analytical techniques to explore the genetic correlations and shared genetic variants of these diseases.
View Article and Find Full Text PDFMedicina (Kaunas)
October 2023
The Clinic of Rheumatology, Traumatology Orthopaedics and Reconstructive Surgery, Institute of Clinical Medicine of the Faculty of Vilnius University, M. K. Čiurlionio Str. 21, 03101 Vilnius, Lithuania.
: About 40% of early undifferentiated arthritis (UA) progresses to rheumatoid (RA) or other chronic arthritis. Novel diagnostic tools predicting the risk for this progression are needed to identify the patients who would benefit from early aggressive treatment. Evidence on the role of single-nucleotide polymorphisms (SNPs) in the development of RA has emerged.
View Article and Find Full Text PDFAutoimmunity
December 2023
Immunogenetics Laboratory, Institute of Biomedicine, University of Turku, Turku, Finland.
We elucidated the effect of four known T1D-susceptibility associated single nucleotide polymorphism (SNP) markers in three genes (rs12722495 and rs2104286 in , rs689 in and rs2476601 in ) on CpG site methylation of their proximal promoters in different lymphocyte subsets using pyrosequencing. The study cohort comprised 25 children with newly diagnosed T1D and 25 matched healthy controls. The rs689 SNP was associated with methylation at four CpG sites in promoter: -234, -206, -102 and -69.
View Article and Find Full Text PDFEur J Intern Med
October 2023
Unidade de Imunologia Clínica, Centro Hospitalar do Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, Portugal.
Introduction: The existence of subphenotypes common to several autoimmune diseases (AIDs) suggests a shared physiopathology - autoimmune tautology. Multiple Autoimmune Syndrome (MAS) - the coexistence of three or more AIDs in one person-, best illustrates that polyautoimmunity is more than a coincidence.
Objectives: Characterize and compare the monoautoimmune and MAS patients.
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