Lack of association between rs591291 and rs3200401 polymorphisms and venous malformation risk in the Chinese pediatric population.

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.