Objective: To evaluate the association of the PTPN2 rs1893217 polymorphism with T1DM and/or its clinical and laboratory characteristics in a Caucasian population from Southern Brazil.
Subjects And Methods: Four hundred and eighty six patients with T1DM and 484 non-diabetic subjects were included in the study. Genotyping of the PTPN2 rs1893217 was performed by real-time PCR.
Results: Genotype frequencies did not differ between T1DM patients and non-diabetic subjects (P = 0.265). The C allele was observed in 14.5% of the T1DM sample and 12.2% of the non-diabetic group (P = 0.152). Moreover, the frequencies of this variant did not differ statistically between T1DM patients and non-diabetic subjects when assuming recessive, dominant, or additive inheritance models. The clinical and laboratory characteristics of T1DM patients did not differ significantly among the three genotypes of the rs1893217 polymorphism, either.
Conclusion: The PTPN2 rs1893217 polymorphism is not significantly associated with T1DM in Caucasian subjects from Southern Brazil.
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http://dx.doi.org/10.1590/0004-2730000003050 | DOI Listing |
Cell Mol Gastroenterol Hepatol
January 2025
Division of Biomedical Sciences, School of Medicine, University of California Riverside, Riverside, California, USA. Electronic address:
Background: Coronavirus disease (COVID-19), caused by SARS-CoV-2, triggered a global pandemic with severe medical and socioeconomic consequences. While fatality rates are higher among the elderly and those with underlying comorbidities, host factors that promote susceptibility to SARS-CoV-2 infection and severe disease are poorly understood. Although individuals with certain autoimmune/inflammatory disorders show increased susceptibility to viral infections, there is incomplete knowledge of SARS-CoV-2 susceptibility in these diseases.
View Article and Find Full Text PDFmedRxiv
September 2024
Division of Biomedical Sciences, University of California, Riverside, Riverside, California.
J Clin Invest
September 2021
Division of Biomedical Sciences, School of Medicine, University of California, Riverside, Riverside, California, USA.
Genome-wide association studies revealed that loss-of-function mutations in protein tyrosine phosphatase non-receptor type 2 (PTPN2) increase the risk of developing chronic immune diseases, such as inflammatory bowel disease (IBD) and celiac disease. These conditions are associated with increased intestinal permeability as an early etiological event. The aim of this study was to examine the consequences of deficient activity of the PTPN2 gene product, T cell protein tyrosine phosphatase (TCPTP), on intestinal barrier function and tight junction organization in vivo and in vitro.
View Article and Find Full Text PDFMicroorganisms
August 2021
Department of Gastroenterology and Hepatology, University Hospital Zurich, Rämistrasse 100, 8091 Zürich, Switzerland.
Gut microbiota appears to be involved in the pathogenesis of primary sclerosing cholangitis (PSC). The protein tyrosine phosphatase nonreceptor 2 (PTPN2) gene risk variant rs1893217 is associated with gut dysbiosis in inflammatory bowel disease (IBD), and PTPN2 was mentioned as a possible risk gene for PSC. This study assessed the microbial profile of ulcerative colitis (UC) patients with PSC and without PSC (non-PSC).
View Article and Find Full Text PDFbioRxiv
December 2020
Division of Biomedical Sciences, School of Medicine, University of California Riverside, Riverside, California, USA.
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