Analysis of the Role of Gene Variants in Matrix Metalloproteinases and Their Tissue Inhibitors in Bronchopulmonary Dysplasia (BPD): A Study in the Polish Population
2025
Dawid Szpecht | Kareem Abu-Amara | Grażyna Kurzawinska | Agnieszka Seremak-Mrozikiewicz
This study aimed to explore the association between genetic variants of matrix metalloproteinases (MMP-1 rs1799750, MMP-9 rs17576, and rs17577) and their tissue inhibitors (TIMP-1 rs4898, TIMP-2 rs2277698, and rs55743137) in the development of bronchopulmonary dysplasia (BPD) in infants from a Polish population. Methods: A cohort consisting of 100 premature infants (47% female) was analyzed, in which there were 38 BPD cases and 62 controls without BPD. Genotype distributions were analyzed, and their relationship with BPD risk was assessed after adjustment for potential confounders. Results: Application of Bonferroni correction for multiple testing showed that none of the single-nucleotide polymorphisms (SNPs) reached the adjusted significance threshold (<i>p</i> < 0.008). However, analysis of allele frequencies using adjusted <i>p</i>-values identified a statistically significant difference for MMP1 rs17999750 (<i>p</i> = 0.038). Conclusion: These findings do not support a significant role of TIMP-2 and MMP-9 genetic variations in the pathogenesis of BPD among preterm infants. While these results are informative, a limitation of this study is the small sample size, and larger studies are needed to confirm these observations.
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