Genetic Determinants of Colonic Diverticulosis—A Systematic Review Article Swipe
YOU?
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· 2025
· Open Access
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· DOI: https://doi.org/10.3390/genes16050581
Background: 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. Methods: 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. Results: 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 TIMP1, MMP3, and MMP9, are involved in diverticulosis development. The TIMP1 (rs4898) T allele has been associated with increased susceptibility, potentially due to its role in ECM remodeling. Similarly, MMP3 (rs3025058) and MMP9 (rs3918242) polymorphisms contribute to altered collagen degradation. The COL3A1 (rs3134646) variant coding modified collagen type III may promote diverticular formation. Other genes, such as ARHGAP15 (rs4662344, rs6736741), affect cytoskeletal dynamics. Identified in GWAS studies, gene candidates may be grouped into blood group and immune system-related genes (ABO, HLA-DQA1, HLA-H, OAS1, TNFSF13, FADD), extracellular matrix and connective tissue genes (COL6A1, COLQ, EFEMP1, ELN, HAS2, TIMP2), signaling and cell communication (BMPR1B, WNT4, RHOU, PHGR1, PCSK5), nervous system and neurodevelopment (BDNF, CACNB2, GPR158, SIRT1, SCAPER, TRPS1), metabolism and transporters (SLC25A28, SLC35F3, RBKS, PPP1R14A, PPP1R16B), lipids and cholesterol (LDAH, LYPLAL1, STARD13), transcription and gene regulation (ZBTB4, UBTF, TNRC6B), apoptosis (FADD, PIAS1), and poorly characterized genes (C1TNF7, ENSG00000224849, ENSG00000251283, LINC01082, DISP2, SNX24, THEM4, UBL4B, UNC50, WDR70, SREK1IP1). Conclusions: 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.
Related Topics
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.3390/genes16050581
- https://www.mdpi.com/2073-4425/16/5/581/pdf?version=1747307229
- OA Status
- gold
- References
- 47
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4410409007
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4410409007Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3390/genes16050581Digital Object Identifier
- Title
-
Genetic Determinants of Colonic Diverticulosis—A Systematic ReviewWork title
- Type
-
reviewOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-05-15Full publication date if available
- Authors
-
Piotr Nehring, Adam PrzybyłkowskiList of authors in order
- Landing page
-
https://doi.org/10.3390/genes16050581Publisher landing page
- PDF URL
-
https://www.mdpi.com/2073-4425/16/5/581/pdf?version=1747307229Direct link to full text PDF
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-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.mdpi.com/2073-4425/16/5/581/pdf?version=1747307229Direct OA link when available
- Concepts
-
Biology, Genome-wide association study, Diverticulosis, Candidate gene, Genetics, Bioinformatics, Medicine, Cancer research, Internal medicine, Gene, Genotype, Single-nucleotide polymorphismTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
- References (count)
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47Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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