Association study between of Tie2/Angiopoietin-2 and VEGF/KDR pathway gene polymorphisms and vascular malformations |
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| Authors: | Qiupeng Zheng Jing Du Zhaofeng Zhang Jianhua Xu Lingyuan Fu Yunlei Cao Xianliang Huang Lingli Guo |
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| Affiliation: | 1. Shanghai Medical College of Fudan University, Shanghai, China;2. Shanghai Institute of Planned Parenthood Research, Shanghai, China;3. Department of Plastic and Reconstructive Surgery, Chinese PLA medical school and Chinese PLA general hospital, Beijing, China;4. Department of Plastic Surgery, Changhai Hospital, Second Military Medical University, Shanghai, China |
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| Abstract: | Vascular malformations (VMs) are common congenital and neonatal dysmorphogenesis. VMs mostly occur sporadically with a few exceptions of inheritability. Tie2/angiopoietins-2 (Ang-2) and VEGF/KDR pathways are known to be involved in normal and pathogenic angiogenesis. Our study was aimed to test the contribution of these pathway gene variants to VMs. A total of 8 variants were found among 103 VM patients and 142 healthy controls. These variants comprised rs638203, rs639225, rs80338908 and rs80338909 in Tie2 gene, rs1870377 and rs2305949 in KDR gene, rs79337921 and rs34590960 in ANTXR1 gene. Our results indicated that rs638203 (p = 0.029) and rs639225 (p = 0.018) in Tie2 gene were associated with VM. A further bioinformatics analysis suggested the rs638203-G and rs639225-G might cause an abnormal splicing of Tie2 gene into to a defective protein. Our results identified two novel Tie2 gene polymorphisms with genetic susceptibility to VMs, although future functional validation of the two polymorphisms is warranted in the future. |
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| Keywords: | VM, vascular malformation VEGF, vascular endothelial growth factor VEGFR2, vascular endothelial growth receptor-2 TEK, tyrosine kinase, endothelial TEM8, tumor endothelium marker 8 MAF, minor allele frequency CI, confidence interval HWE, Hardy&ndash Weinberg equilibrium OR, odds ration |
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