The Role of VEGF and KDR Polymorphisms in Moyamoya Disease and Collateral Revascularization

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Abstract

We conducted a case-control study to investigate whether vascular endothelial growth factor (VEGF 22578, 21154, 2634, and 936) and kinase insert domain containing receptor (KDR 2604(KDR , 1192(KDR , and 1719) ) polymorphisms are associated with moyamoya disease. Korean patients with moyamoya disease (n = 107, mean age, 20.9615.9 years; 66.4% female) and 243 healthy control subjects (mean age, 23.0616.1 years; 56.8% female) were included. The subjects were divided into pediatric and adult groups. Among the 64 surgical patients, we evaluated collateral vessel formation after 2 years and divided patients into good (collateral grade A) or poor (collateral grade B and C) groups. The frequencies and distributions of four VEGF (22578, 21154, 2634, and 936) and KDR (2604, 1192, and 1719) polymorphisms were assessed from patients with moyamoya disease and compared to the control group. No differences were observed in VEGF 22578, 21154, 2634, and 936 or KDR 2604, 1192, and 1719 polymorphisms between the control group and moyamoya disease group. However, we found the 2634CC genotype occurred less frequently in the pediatric moyamoya group (p = 0.040) whereas the KDR 2604C/1192A/1719T haplotype increased the risk of pediatric moyamoya (p = 0.024). Patients with the CC genotype of VEGF 2634 had better collateral vessel formation after surgery. Our results suggest that the VEGF 2634G allele is associated with pediatric moyamoya disease and poor collateral vessel formation.

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