ArticleGastroenterology and hepatology from bed to bench2025
Unraveling genetic signatures: the impact of SNPs on therapy response in inflammatory bowel disease patients.
Article in Gastroenterology and hepatology from bed to bench, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Inflammatory bowel disease (IBD) is a chronic condition characterized by immune dysregulation and intestinal inflammation, with anti-tumor necrosis factor α (anti-TNFα) therapies being a key treatment strategy. However, therapeutic responses vary across patients due to genetic factors, necessitating the identification of predictive biomarkers to optimize outcomes. This study employs bioinformatic approaches to investigate the deleterious effects of SNPs in IBD-associated genes, focusing on the structural implications of Method: The study utilized a systematic literature review to identify genes influencing drug response in IBD, followed by SNP detection. SNPs were filtered based on population frequencies using global databases (gnomAD, ExAC) and Iranome for region-specific data. Structural and functional impacts of missense variants were evaluated using in silico tools and protein domain analysis via InterPro and UniProt. Additionally, molecular dynamics simulation indicated structural changes in HFE gene variants, RNA-seq data analyzed differential gene expression, and miRNASNP-v3 predicted miRNA binding site alterations in 3' UTR regions. Result: A comprehensive bioinformatics approach identified 41 key IBD drug response genes contributing to cellular pathways, with 69 coding sequence SNPs and 27 3'-UTR SNPs selected for analysis. Coding SNPs, including ABCB1 and Conclusion: This study explores genetic variations influencing anti-TNF therapy responses in IBD patients. Polymorphisms like
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