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Article Abstract
Introduction: Venous malformations are the most common congenital vascular anomaly, accounting for 65 % of all congenital vascular abnormalities. This study aims to investigate the correlation between genetic polymorphisms of and the risk of developing venous malformations.
Methods: We collected samples and clinical data from a Chinese pediatric population (1113 patients and 1158 controls). Using real-time quantitative PCR, we performed TaqMan genotyping on rs591291 C > T and rs3200401 C > T polymorphisms and further analyzed the data through statistical methods.
Results: Sequencing results and analysis indicate that the rs591291 C > T and rs3200401 C > T polymorphisms are not significantly correlated with the risk of venous malformation. When combined both genotypes also present no statistic difference in increased risk of developing these anomalies (odds ratio = 0.90, 95 % confidence interval = 0.72-1.13, = 0.354). Stratified analysis of different subtypes of venous malformations revealed that there was no statistic difference in the selected polymorphisms of across these subtypes.
Conclusion: Our findings suggested that rs591291 C > T and rs3200401 C > T polymorphisms were not correlated to the risk of venous malformation in the Chinese pediatric population.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12391741 | PMC |
| http://dx.doi.org/10.1016/j.bbrep.2025.102209 | DOI Listing |
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