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Genetic Determinants of Colonic Diverticulosis-A Systematic Review
Piotr Nehring1, Adam Przybyłkowski1
1Department of Gastroenterology and Internal Medicine, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
Genes
|May 28, 2025
Summary
Genetic factors, including those affecting extracellular matrix remodeling and collagen degradation, predispose individuals to colonic diverticulosis. Understanding these genetic determinants is key for future therapeutic and preventive strategies.
Area of Science:
- Genetics
- Gastroenterology
- Molecular Biology
Background:
- Colonic diverticulosis is common, especially in the elderly.
- While lifestyle factors play a role, genetic predisposition is increasingly recognized.
- This predisposition involves extracellular matrix (ECM) remodeling, inflammation, and connective tissue integrity.
Purpose of the Study:
- To systematically review and summarize the genetic factors associated with colonic diverticulosis.
- To identify specific gene variants and their potential roles in disease development.
Main Methods:
- Systematic review of original human studies.
- Searched PubMed database for studies meeting inclusion criteria: named genetic factor and confirmed diverticulosis.
- Excluded studies on diverticulitis or other diverticular diseases.
Main Results:
- Ten studies (six GWAS, four cross-sectional) met criteria.
- Genes involved in ECM turnover (TIMP1, MMP3, MMP9) and collagen degradation (COL3A1) are implicated.
- GWAS identified numerous gene candidates across various functional categories, including immune system, ECM, signaling, and nervous system.
Conclusions:
- Multiple gene variants likely predispose individuals to colonic diverticulosis.
- Further characterization of the genetic background is essential for developing targeted interventions.
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