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Matrix Metalloproteinases Family Gene Polymorphisms Are Associated with Thrombosis Risk in Myeloproliferative
Roberta Vadeikienė1, Aistė Savukaitytė1, Danguolė Laukaitienė1
1Oncology Research Laboratory, Institute of Oncology, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania.
Abstract:
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic disorders characterized by excessive proliferation of one or more myeloid lineages, frequently accompanied by an elevated risk of thrombotic events. Matrix metalloproteinases (MMPs), a family of zinc-dependent endopeptidases, are implicated in numerous inflammatory and vascular pathophysiological processes. In this study, we analyzed the association between selected MMP polymorphisms, rs1799750, rs243865, rs3025058, rs3918242, and rs17576, and thrombotic risk as well as clinical characteristics in patients with MPNs. Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Among the polymorphisms analyzed, a statistically significant association was identified between the MMP-9 rs3918242 CT genotype and an increased risk of arterial thrombosis (OR = 4.206, CI 1.337-13.234, p = 0.014). Moreover, rs3918242 CT was associated with thrombotic events (both arterial and venous thrombosis combined), suggesting a potential contributory role in the prothrombotic phenotype observed in MPNs (OR = 3.200, CI 1.110-9.258, p = 0.031). These findings indicate that genetic variation in MMP-9, particularly rs3918242, may serve as a predictive marker for vascular complications in MPN patients. Further studies with larger cohorts are warranted to confirm these associations and to elucidate the molecular mechanisms underlying the contribution of MMP polymorphisms to thrombosis in MPNs.
Insights
Genetic variations in Matrix Metalloproteinase-9 (MMP-9) are linked to increased thrombosis risk in myeloproliferative neoplasms (MPNs). Specifically, the MMP-9 rs3918242 polymorphism may predict vascular complications in MPN patients.
Area of Science:
- Hematology
- Genetics
- Vascular Biology
Background:
- Myeloproliferative neoplasms (MPNs) are blood cancers causing excessive myeloid cell growth and high thrombosis risk.
- Matrix metalloproteinases (MMPs) are enzymes involved in inflammation and vascular processes, potentially influencing thrombosis.
Purpose of the Study:
- To investigate the association between specific MMP gene polymorphisms and thrombotic risk in MPN patients.
- To identify potential genetic markers for predicting vascular complications in MPNs.
Main Methods:
- Genotyping of selected MMP polymorphisms (rs1799750, rs243865, rs3025058, rs3918242, rs17576) using PCR-RFLP.
- Analysis of the association between genotypes and thrombotic events (arterial and venous) in MPN patients.
Main Results:
- The MMP-9 rs3918242 CT genotype showed a significant association with increased arterial thrombosis risk (OR=4.206, p=0.014).
- This genotype was also linked to overall thrombotic events in MPN patients (OR=3.200, p=0.031), suggesting a role in the prothrombotic state.
Conclusions:
- Genetic variations in MMP-9, particularly the rs3918242 polymorphism, may contribute to the prothrombotic phenotype in MPNs.
- MMP-9 rs3918242 could serve as a predictive marker for vascular complications in MPN patients, warranting further investigation in larger cohorts.
