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Updated: Jun 19, 2026
Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
Published on: July 3, 2020
A functional polymorphism in MMP1 could influence osteomyelitis development
Angel Hugo Montes1, Eulalia Valle-Garay, Victoria Alvarez
1Departamento de Bioquímica y Biologia Molecular, Facultad de Medicina, Universidad de Oviedo, Oviedo, Spain.
Abstract:
Osteomyelitis (OM) is a bone infection characterized by necrosis and new formation of bone. Because matrix metalloproteases (MMPs) play an important role in bone extracellular matrix remodeling, we investigated the role of some MMP polymorphisms in OM patients. A total of 118 OM patients and 300 blood donors were genotyped for the polymorphisms of MMP1 (-1607 1G/2G) and MMP13 (-77A/G). Levels of MMPs (-1, -2, -3, -8, -9, -10, and -13) and tissue inhibitors of metaloproteases (TIMP-1, -2, and -4) in serum and in human osteoblasts obtained from OM biopsies also were determined. The MMP1 (-1607 2G/2G) genotype was significantly more frequent among OM patients compared with controls [65.3% versus 33.7%, chi(2) = 26.85, odds ratio (OR) = 3.24, 95% confidence interval (CI) 2.03-5.2, p < .0001]. The MMP1 2G allele also was more frequent in OM patients (73.3% versus 57.2%, chi(2) = 37.76, OR = 2.75, 95% CI 1.96-3.85, p < .0001). Carriers of the 2G allele had significantly higher osteoblast MMP1 mRNA and MMP-1 serum levels than noncarriers (p < .04). Interleukin 1alpha (IL-1alpha) increased MMP-1 and -13 protein secretion and Ets1 mRNA expression by OM patients' osteoblasts. No association of the MMP13 (-77 A/G) polymorphism with OM was observed. The MMP1 (-1607 1G/2G) polymorphism might contribute to OM pathogenesis. This could be due to increased expression of MMP-1 by osteoblasts and is regulated by IL-1alpha.
Insights
The MMP1 gene polymorphism (2G allele) is linked to osteomyelitis (OM), a bone infection. This genetic factor may increase MMP-1 production in bone cells, potentially contributing to disease development.
Area of Science:
- Genetics
- Bone Biology
- Infectious Diseases
Background:
- Osteomyelitis (OM) is a serious bone infection involving bone remodeling.
- Matrix metalloproteinases (MMPs) are crucial enzymes in bone extracellular matrix remodeling.
- Genetic variations (polymorphisms) in MMP genes may influence susceptibility to OM.
Purpose of the Study:
- To investigate the association between MMP1 and MMP13 gene polymorphisms and osteomyelitis.
- To determine the levels of MMPs and tissue inhibitors of metalloproteinases (TIMPs) in OM patients.
- To explore the role of interleukin-1alpha (IL-1alpha) in regulating MMP expression in OM.
Main Methods:
- Genotyping of 118 OM patients and 300 controls for MMP1 (-1607 1G/2G) and MMP13 (-77A/G) polymorphisms.
- Measurement of serum and osteoblast MMPs and TIMPs levels.
- Assessment of IL-1alpha effects on osteoblast MMP secretion and mRNA expression.
Main Results:
- The MMP1 (-1607 2G/2G) genotype and 2G allele were significantly more frequent in OM patients.
- Carriers of the MMP1 2G allele exhibited higher osteoblast MMP1 mRNA and serum MMP-1 levels.
- IL-1alpha stimulation increased MMP-1 and MMP-13 secretion and Ets1 mRNA expression in OM osteoblasts.
Conclusions:
- The MMP1 (-1607 1G/2G) polymorphism is associated with osteomyelitis and may contribute to its pathogenesis.
- Increased MMP-1 expression by osteoblasts, potentially regulated by IL-1alpha, may underlie this association.
- MMP13 polymorphism showed no significant association with osteomyelitis in this study.
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