We conducted a case-control study to investigate whether vascular endothelial 
growth factor (VEGF -2578, -1154, -634, and 936) and kinase insert domain 
containing receptor (KDR -604, 1192, and 1719) polymorphisms are associated with 
moyamoya disease. Korean patients with moyamoya disease (n = 107, mean age, 
20.9±15.9 years; 66.4% female) and 243 healthy control subjects (mean age, 
23.0±16.1 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 (-2578, -1154, -634, and 936) and KDR (-604, 
1192, and 1719) polymorphisms were assessed from patients with moyamoya disease 
and compared to the control group. No differences were observed in VEGF -2578, 
-1154, -634, and 936 or KDR -604, 1192, and 1719 polymorphisms between the 
control group and moyamoya disease group. However, we found the -634CC genotype 
occurred less frequently in the pediatric moyamoya group (p = 0.040) whereas the 
KDR -604C/1192A/1719T haplotype increased the risk of pediatric moyamoya (p = 
0.024). Patients with the CC genotype of VEGF -634 had better collateral vessel 
formation after surgery. Our results suggest that the VEGF -634G allele is 
associated with pediatric moyamoya disease and poor collateral vessel formation.