Background: Venous malformation is related to genes and results in functional and morphologic anomalies. Genetic variations affecting the development of vessel endothelial cells are unclear. Therefore, this study aimed to investigate the potential value of the miR-100 rs1834306 A>G polymorphism as a marker of susceptibility to venous malformation.
Methods: In this case–control study in southern Chinese children, we collected blood samples from 1158 controls and 1113 patients with venous malformation. TaqMan genotyping of miR-100 rs1834306 A>G was performed by real-time fluorescent quantitative polymerase chain reaction.
Results: Multivariate logistic regression analysis showed that there was no significant association between the presence of the miR-100 rs1834306 A>G polymorphism and susceptibility to venous malformation by evaluating the values of pooled odds ratios and 95% confidence intervals. Similarly, among different sites, rs1834306 A>G was also not associated with venous malformation.
Conclusion: Our results suggest that the miR-100 rs1834306 A>G polymorphism is not associated with susceptibility to venous malformation in southern Chinese children. These results need to be further confirmed by investigating a more diverse ethnic population of patients with venous malformations.

Keywords: vascular malformation, susceptibility, miR-100, polymorphism