Background And Aim: Ulcerative colitis (UC) is a multifactorial disease associated with dysregulated immunity. Recently, cytotoxic T lymphocyte associated antigen 4 (CTLA-4) gene polymorphisms have been reported in association with several autoimmune diseases in several populations. In the present study, the possible implication of the CTLA-4 gene as a risk factor for UC in the Iranian population was investigated.
Methods: One hundred UC patients and 100 healthy subjects were studied. CTLA-4 exon 1 position 49 (A/G: codon 17: Thr/Ala) polymorphisms were investigated by polymerase chain reaction single strand confirmation polymorphism method. Four of the patients and one of the healthy controls were excluded from the study because of incomplete DNA extraction.
Results: The allele frequencies of A and G in 96 patients (A: 66.1%; G: 33.9%) were not significantly different from the 99 control subjects (A: 63.1%; G: 36.9%, P > 0.05). No significant differences in the distribution of genotype frequencies were observed between A + 49G gene polymorphisms and UC in the Iranian population (P > 0.05).
Conclusion: CTLA-4 polymorphism is not associated with UC in the Iranian population.
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http://dx.doi.org/10.1111/j.1440-1746.2005.03956.x | DOI Listing |
FASEB J
January 2025
College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang, China.
Inflammatory bowel disease (IBD) with the two predominant endophenotypes-Crohn's disease (CD) and ulcerative colitis (UC)-represents a group of chronic gastrointestinal inflammatory conditions. Since most genetic associations with IBD are often limited to independent subtypes, we reported a genome-wide association study (GWAS) cross-trait analysis combined with CD and UC to enhance statistical power. Initially, we detected 256 association signals at 54 genomic susceptibility loci and further characterized the functionality of variants within these regions.
View Article and Find Full Text PDFMicrobiol Spectr
January 2025
National Food Virology Reference Center, Bureau of Microbial Hazards, Health Canada, Ottawa, Ontario, Canada.
Human noroviruses are the leading cause of non-bacterial shellfish-associated gastroenteritis. In 2022, a multi-jurisdictional norovirus outbreak associated with contaminated oysters occurred that involved hundreds of illnesses. Here, we conducted genetic analysis on 30 clinical samples associated with this oyster outbreak.
View Article and Find Full Text PDFmSystems
January 2025
Institute for Infection Prevention and Control, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
The surveillance of mobile genetic elements facilitating the spread of antimicrobial resistance genes has been challenging. Here, we tracked both clonal and plasmid transmission in colistin- and carbapenem-resistant using short- and long-read sequencing technologies. We observed three clonal transmissions, all containing Incompatibility group (Inc) L plasmids and New Delhi metallo-beta-lactamase , although not co-located on the same plasmid.
View Article and Find Full Text PDFExpert Opin Drug Metab Toxicol
January 2025
Institute of Psychology, University of Innsbruck, Austria.
Introduction: The prevalence of polypharmacy and the increasing availability of pharmacogenetic information in clinical practice have raised the prospect of data-driven clinical decision making when addressing the issues of drug-drug interactions and genetic polymorphisms in metabolizing enzymes. Inhibition of metabolizing enzymes in drug interactions can lead to genotype-phenotype discrepancies (phenoconversion) that reduce the relevance of individual pharmacogenetic information.
Areas Covered: The aim of this review is to provide an overview on existing models of phenoconversion and we discuss how phenoconversion models may be developed to estimate joint drug-interactions and genetic effects.
Cells
December 2024
BIH Center for Regenerative Therapies (BCRT), Therapy-Induced Remodeling in Immuno-Oncology, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.
Antibody-dependent cell-mediated cytotoxicity (ADCC) by NK cells is a key mechanism in anti-cancer therapies with monoclonal antibodies, including cetuximab (EGFR-targeting) and avelumab (PDL1-targeting). Fc gamma receptor IIIa (FcγRIIIa) polymorphisms impact ADCC, yet their clinical relevance in NK cell functionality remains debated. We developed two complementary flow cytometry assays: one to predict the FcγRIIIa-V158F polymorphism using a machine learning model, and a 15-color flow cytometry panel to assess antibody-induced NK cell functionality and cancer-immune cell interactions.
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