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Cytotoxic T-Lymphocyte Antigen 4 (CTLA4) downregulates the immune system. Lymphoid tyrosine phosphatase (Lyp)--PTPN22 protein--is suggested to be negative regulator of T-cell reaction. There are several polymorphisms in the CTLA4 and PTPN22 genes, which can influence the immune response and allograft function after kidney transplantation. The aim of this study was to examine the impact of CTLA4 and PTPN22 genes polymorphisms on the long-term renal transplant function and recipients' outcomes during a 5-year follow-up observation. The study enrolled 268 Caucasian renal transplant recipients. Genotyping of the rs231775 (+49AG) CTLA4 gene polymorphism was performed using real-time PCR and rs2476601 (C1858T) PTPN22 gene polymorphism using PCR-RFLP method. The 5-year graft survival rate was 81.7%. Dialysis was necessary in 22 (8%) patients, 7 (2.6%) patients died and 20 (7.4%) switched to another transplantation center. We found no association between studied polymorphisms and graft loss/dialysis. Comparison of the distribution of the +49AG CTLA4 and C1858T PTPN22 genes polymorphisms genotypes among dead and living patients showed no statistically significant differences. Above results suggest that the rs231775 (+49AG) CTLA4 and rs2476601 (C1858T) PTPN22 genes polymorphisms are not associated with long-term allograft failure, graft loss and mortality after transplantation.
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http://dx.doi.org/10.3109/0886022X.2013.823871 | DOI Listing |
Aging Dis
August 2025
Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain.
Giant cell arteritis (GCA) is a complex inflammatory disease affecting individuals over 50 suggesting a strong link with aging-related immune and vascular changes. However, the precise mechanisms underlying this age-related susceptibility remain poorly understood. Considering the relevance of aging in GCA, genetic factors influencing biological aging markers, such as telomere shortening and epigenetic age acceleration (EAA), might also contribute to its development.
View Article and Find Full Text PDFInt J Mol Sci
August 2025
Department of Cardiology, West China Hospital of Sichuan University, Chengdu 610041, China.
Recent multiomics advancements have improved our understanding of immune dysregulation in dilated cardiomyopathy (DCM). However, specific immune cell subsets and their regulatory genes are still ambiguous. This study aimed to explore immune cell imbalances and regulatory genes in DCM, discover diagnostic biomarkers, and identify potential therapeutic targets.
View Article and Find Full Text PDFJ Med Biochem
July 2025
University of Montenegro, Faculty of Medicine, Podgorica, Montenegro.
Vitiligo is an autoimmune disorder with a complex genetic and epigenetic aetiology, characterised by progressive skin depigmentation. Recent advancements in artificial intelligence (AI) have greatly impacted the understanding, diagnosis, and treatment of vitiligo. The genetic basis of vitiligo is linked to multiple single nucleotide polymorphisms (SNPs) in genes associated with immune function, apoptosis, and melanogenesis, necessitating the integration of AI for more efficient diagnostic tools and personalised therapies.
View Article and Find Full Text PDFInt J Mol Sci
July 2025
Haematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Non-remitting neutropenia in children and chronic idiopathic neutropenia (CIN) in adults have been described previously as peculiar subgroups of neutropenic patients carrying similar clinical and immunological features. The present collection comprising 25 subjects (16 adults and 9 children) mostly affected with mild (84%) and moderate (16%) neutropenia aimed to identify the underlying (possibly common) genetic background. The phenotype of these patients resemble the one described previously: no severe infections, presence of rheumathological signs, leukopenia in almost all patients and lymphocytopenia in one-third of the cohort.
View Article and Find Full Text PDFEgypt J Immunol
July 2025
Department of Clinical Pathology, Faculty of Medicine, Assiut University, Assiut, Egypt.
Inflammatory bowel disease (IBD) is a class of chronic inflammatory disorders including, Crohn's disease (CD) and ulcerative colitis (UC). The PTPN22 gene is thought to be a T-cell negative regulator, regulates immune cell activation, and an important risk factor for human autoimmunity. This study aimed to investigate the potential association of PTPN22 gene single nucleotide polymorphisms (SNPs) with inflammatory bowel disease in Egyptian patients and their relation to clinical disease characteristics.
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