Genetic Association of MMP-13 rs2252070 and rs478927 Polymorphisms With Childhood Acute Lymphoblastic Leukemia in Taiwan.
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BACKGROUND/AIM: Matrix metalloproteinase-13 (MMP-13) plays an important role in extracellular matrix remodeling and has been implicated in the susceptibility and progression of several malignancies. However, the contribution of MMP-13 genetic polymorphisms to childhood acute lymphoblastic leukemia (ALL) remains unknown. This study aimed to investigate the associations of MMP-13 rs2252070 and rs478927 polymorphisms with childhood ALL susceptibility in a Taiwanese population. PATIENTS AND METHODS: A hospital-based case-control study was conducted involving 266 pediatric ALL patients and 266 age- and sex-matched healthy controls. Genomic DNA was isolated from peripheral blood leukocytes, and MMP-13 rs2252070 and rs478927 genotypes were determined using polymerase chain reaction-restriction fragment length polymorphism methodology. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression analysis. RESULTS: The genotype distributions of rs2252070 and rs478927 among controls were consistent with Hardy-Weinberg equilibrium (p=0.1481 and 0.1843, respectively). No significant association was observed between rs2252070 genotypes and childhood ALL risk. Compared with the AA genotype, the AG genotype exhibited an OR of 0.83 (95% CI=0.56-1.23, p=0.4071), while the GG genotype showed an OR of 0.86 (95% CI=0.54-1.36, p=0.5961). Similarly, no significant association was identified for rs478927, with ORs of 0.81 (95% CI=0.54-1.20, p=0.3436) and 0.81 (95% CI=0.51-1.29, p=0.4454) for CT and TT genotypes, respectively. Allelic analyses further demonstrated no association between rs2252070 (OR=0.91, 95% CI=0.72-1.16, p=0.4991) or rs478927 (OR=0.89, 95% CI=0.70-1.13, p=0.3566) and childhood ALL susceptibility. CONCLUSION: This is the first study to evaluate MMP-13 polymorphisms in childhood ALL. Our findings indicate that no statistically significant association between MMP-13 rs2252070 or rs478927 polymorphisms and childhood ALL susceptibility was detected in this Taiwanese cohort. Larger multi-center and functional studies are warranted to validate these observations and further clarify the role of MMP-13 in leukemogenesis.