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Genetic Variants in Matrix Metalloproteinases (rs3025058) and (rs3918242) Associated with Colonic Diverticulosis. | LitMetric

: 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. : 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 rs3025058, rs3918242, and rs2276109 using the polymerase chain reaction-restriction fragments length polymorphism technique. : The rs3918242 allele T was notably more frequent in individuals with diverticulosis when compared with the control group ( < 0.03). Furthermore, it was associated with dominant (OR = 2.62; 95% CI: 1.24-5.56; < 0.01) and co-dominant (OR = 2.10; 95% CI: 1.06-4.13; < 0.03) genetic models. The 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 rs2276109 and colonic diverticulosis. : Our study offers the first insight into a potential connection between genetic variants in MMPs and colon diverticulosis. Specifically, allele T of rs3918242 and allele 5A of rs3025058 appear to be linked to this condition. These findings indirectly suggest a role for extracellular matrix proteins in the pathogenesis of diverticulosis.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10673370PMC
http://dx.doi.org/10.3390/medicina59112031DOI Listing

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