Genetic Variants in Matrix Metalloproteinases MMP3 (rs3025058) and MMP9 (rs3918242) Associated with Colonic Diverticulosis.

Abstract

Background and Objectives: Diverticulosis affects a significant portion of the elderly population, with age and lifestyle being established risk factors. Additionally, genetic predisposition is gaining recognition as a contributing factor. This pilot study sought to explore the frequency of genetic variants in matrix metalloproteinases (MMPs) 3, 9, and 12 in a population of colonic diverticulosis patients. Materials and Methods: The study encompassed 134 participants: 59 diagnosed with colon diverticulosis during colonoscopy and 75 healthy controls. The cases and controls were meticulously matched in terms of age and gender. We assessed the distribution of genetic variants MMP3 rs3025058, MMP9 rs3918242, and MMP12 rs2276109 using the polymerase chain reaction-restriction fragments length polymorphism technique. Results: The MMP9 rs3918242 allele T was notably more frequent in individuals with diverticulosis when compared with the control group (p < 0.03). Furthermore, it was associated with dominant (OR = 2.62; 95% CI: 1.24-5.56; p < 0.01) and co-dominant (OR = 2.10; 95% CI: 1.06-4.13; p < 0.03) genetic models. The MMP3 rs3025058 5A/5A genotype was nearly twice as frequent in patients with diverticulosis, while the 6A/6A genotype was only half as common in this group. Conversely, no significant correlation was established between MMP12 rs2276109 and colonic diverticulosis. Conclusions: Our study offers the first insight into a potential connection between genetic variants in MMPs and colon diverticulosis. Specifically, allele T of MMP9 rs3918242 and allele 5A of MMP3 rs3025058 appear to be linked to this condition. These findings indirectly suggest a role for extracellular matrix proteins in the pathogenesis of diverticulosis.

• Authors: Piotr Nehring, Grażyna Gromadzka, Miłosz Jastrzębski, Adam Przybyłkowski
• Journal: Medicina (Kaunas, Lithuania) (Medicina (Kaunas)) Vol. 59 Issue 11 (Nov 17 2023) ISSN: 1648-9144 [Electronic] Switzerland
• PMID: 38004080 (Publication Type: Journal Article)

Chemical References

• Matrix Metalloproteinase 12
• Matrix Metalloproteinase 3
• Matrix Metalloproteinase 9
• MMP3 protein, human
• MMP9 protein, human

Topics

• Aged
• Humans
• Case-Control Studies
• Diverticulosis, Colonic (genetics)
• Diverticulum
• Genetic Predisposition to Disease (genetics)
• Genotype
• Matrix Metalloproteinase 12 (genetics)
• Matrix Metalloproteinase 3 (genetics)
• Matrix Metalloproteinase 9 (genetics)
• Pilot Projects
• Polymorphism, Single Nucleotide (genetics)