Objective: In view of the discrepant data regarding the association between the protein tyrosine phosphatase non-receptor 22 (PTPN22) rs2476601 (R620W, 1858C→T) polymorphism and susceptibility to autoimmune diseases including inflammatory bowel diseases (IBD), we investigated whether this functional single-nucleotide polymorphism influences IBD risk in a group of Moroccan patients.
Results: This is the first report on the prevalence of PTPN22 (R620W) variant in a Moroccan cohort. No evidence of statistically significant differences was observed when the PTPN22 (R620W) allele and genotype distribution among IBD, Crohn's disease (CD), ulcerative colitis (UC) patients and healthy controls were compared. The frequency of the variant allele in healthy subjects was 1.77% compared to 2.56% in the IBD patients and 1.85% in CD patients. Furthermore, the frequency of this allele was increased in UC patients compared to controls (4.17% vs. 1.77%, OR = 2.42, 95% CI 0.82-7.08; P = 0.09), but the difference was not statistically significant. Our data suggest a lack of association between PTPN22 R620W variant and IBD susceptibility in Moroccan patients.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211604 | PMC |
| http://dx.doi.org/10.1186/s13104-018-3875-7 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The protein tyrosine phosphatase Lyp/PTPN22 drives TNFα-induced priming of superoxide anions production by neutrophils and arthritis.
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 PDFR620W gene editing in T cells enhances low-avidity TCR responses.
Elife
March 2023
Department of Pediatrics and Immunology, University of Washington, Seattle, United States.
A genetic variant in the gene (R620W, rs2476601) is strongly associated with increased risk for multiple autoimmune diseases and linked to altered TCR regulation and T cell activation. Here, we utilize Crispr/Cas9 gene editing with donor DNA repair templates in human cord blood-derived, naive T cells to generate risk edited (620W), non-risk edited (620R), or knockout T cells from the same donor. risk edited cells exhibited increased activation marker expression following non-specific TCR engagement, findings that mimicked KO cells.
View Article and Find Full Text PDFSH3-domain mutations selectively disrupt Csk homodimerization or PTPN22 binding.
Sci Rep
April 2022
Department of Pharmacology, University of Minnesota, Minneapolis, MN, 55455, USA.
The kinase Csk is the primary negative regulator of the Src-family kinases (SFKs, e.g., Lck, Fyn, Lyn, Hck, Fgr, Blk, Yes), phosphorylating a tyrosine on the SFK C-terminal tail that mediates autoinhibition.
View Article and Find Full Text PDFImprovement of Lipoplexes With a Sialic Acid Mimetic to Target the C1858T Variant for Immunotherapy in Endocrine Autoimmunity.
Front Immunol
April 2022
Infectivology and Clinical Trials Research Department, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Article Synopsis
- The C1858T variant of the protein tyrosine phosphatase N22 gene is linked to autoimmune diseases like Type 1 diabetes and autoimmune thyroiditis, causing a mutation that reduces T cell activation.
- Researchers developed a personalized treatment using liposomes to deliver siRNA that targets this variant allele more effectively when enhanced with a Siglec-10 ligand.
- The modified lipoplexes (LiposiRNA-Sig10L) showed improved inhibition of the variant mRNA and better restored IL-2 secretion in peripheral blood mononuclear cells (PBMC) from patients with heterozygous Type 1 diabetes compared to standard treatments.
Preparation and In Vitro Evaluation of RITUXfab-Decorated Lipoplexes to Improve Delivery of siRNA Targeting C1858T PTPN22 Variant in B Lymphocytes.
Int J Mol Sci
December 2021
Infectivology and Clinical Trials Research Department, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 00146 Rome, Italy.
Autoimmune endocrine disorders, such as type 1 diabetes (T1D) and thyroiditis, at present are treated with only hormone replacement therapy. This emphasizes the need to identify personalized effective immunotherapeutic strategies targeting T and B lymphocytes. Among the genetic variants associated with several autoimmune disorders, the C1858T polymorphism of the protein tyrosine phosphatase non-receptor type 22 () gene, encoding for Lyp variant R620W, affects the innate and adaptive immunity.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!