Genetic variation in the vascular endothelial growth factor gene is associated with biliary atresia.
OBJECTIVE
Biliary atresia (BA) is a chronic inflammatory disease of the bile ducts resulting in biliary cirrhosis. Vascular endothelial growth factor (VEGF) has been implicated in cell-mediated inflammatory reactions. We aimed to study the relationship between genetic variations of the VEGF gene and susceptibility to BA using both case-control and family-based methodologies.


METHODS
A total of 45 Taiwanese children with BA, 160 ethnically matched healthy controls, and 40 families (consisting of parents, affected children, and unaffected siblings) were studied. Three functional VEGF polymorphisms (-2578 A/C, -634 G/C, and +936 C/T) were assessed by using TaqMan assay.


RESULTS
The +936 CC genotype [odds ratio (OR) 3.51, 95% confidence interval 1.54-8.01, P(c)=0.006] and C allele (OR 3.19, 95% confidence interval 1.48-6.90, P(c)=0.004) were significantly associated with increased risk of BA. The association of the +936 C allele with BA was also confirmed in a family-based association study (OR 5.7, chi2=9.8, P(c)=0.005). None of the haplotypes studied significantly influenced the risk to BA in either the case-control or family data sets.


CONCLUSIONS
The VEGF +936 C/T polymorphism and particularly the C allele are associated with BA, possibly conferring increased susceptibility to the disease.
Lee
Hung-Chang
HC
Department of Pediatrics, Mackay Memorial Hospital, Taipei Medical University, Nursing and Management College, Taipei, Taiwan.
Chang
Tzu-Yang
TY
Yeung
Chun-Yan
CY
Chan
Wai-Tao
WT
Jiang
Chuen-Bin
CB
Chen
Wei-Fang
WF
Chan
Hui-Wen
HW
Liu
Hsin-Fu
HF
Lin
Marie
M
Lee
Yann-Jinn
YJ
D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001656:Biliary Atresia / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011110:Polymorphism, Genetic; D013624:Taiwan; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*; D055815:Young Adult
D042461:Vascular Endothelial Growth Factor A