Piotr Nehring, Adam Przybyłkowski
Journal: Genes 2025;16(5):
PMID: 40428403
: Colonic diverticulosis is a common condition, particularly in the elderly population. While dietary habits, obesity, smoking, and physical inactivity contribute to its pathogenesis, emerging evidence highlights a genetic predisposition affecting extracellular matrix (ECM) remodeling, inflammation, and connective tissue integrity. The aim of this systematic review was to summarize genetic determinants of colonic diverticulosis. : The PubMed database was searched for original studies in humans. The inclusion criteria were named genetic factor and confirmed diverticulosis. Patients with diverticulitis and diverticular diseases were excluded from this review. : Out of 137 publications, 10 articles met the inclusion criteria: six large association studies (GWAS) and four cross-sectional studies. The genes regulating ECM turnover, including , , and , are involved in diverticulosis development. The () T allele has been associated with increased susceptibility, potentially due to its role in ECM remodeling. Similarly, () and () polymorphisms contribute to altered collagen degradation. The () variant coding modified collagen type III may promote diverticular formation. Other genes, such as (, ), affect cytoskeletal dynamics. Identified in GWAS studies, gene candidates may be grouped into blood group and immune system-related genes (, , , , , ), extracellular matrix and connective tissue genes (, , , , , ), signaling and cell communication (, , , , ), nervous system and neurodevelopment (, , , , , ), metabolism and transporters (, , , , ), lipids and cholesterol (, , ), transcription and gene regulation (, , ), apoptosis (, ), and poorly characterized genes (, , , , , , , , , , ). : There are a number of gene variants that probably predispose to colonic diverticulosis. Detailed characterization of the multigene background of diverticulosis will enable appropriate therapeutic or preventive interventions in the future.
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