ICAM-1 GENE G241R POLYMORPHISM IS ASSOCIATED WITH BILIARY ATRESIA
Articles > Article · 2005
Authors: A Berdeli, C Arikan, G Tumgor, Sema AYDOĞDU, R Yagci
Journal of Pediatric Gastroenterology and Nutrition, International, WoS, 2005, vol 40, pp 676-676
DOI: 10.1097/00005176-200505000-00187
Summary
Biliary atresia is the most common cause of pathologic infant jaundice and one of the most common reasons for liver transplantation. Through a number of hypothesis have been developed to account for this disease, its pathogenesis is poorly understood. There is a substantial evidence that this is an immune mediated disease which occurs in a genetically susceptible host. The intercellular adhesion molecule-1 (ICAM-1) is of paramount importance for the initiation and propagation of various inflammatory conditions. The significance of this molecule in the pathogenesis of biliary atresia is not clear. Aim: To determine whether the Glu241Arg polymorphism in the ICAM-1 gene, which impairs inflammatory responses, is associated with biliary atresia. Method: Twelve patients (mean age 0.6 ± 0.4) with biliary atresia, 42 children with chronic liver disease and a group of unrelated healthy controls (n = 123) included in this study. After informed consent, blood was collected and genomic DNA was obtained. Genotyping was performed by amplification-refractory mutation system polymerase chain reaction (ARMSPCR). Associations were assessed by using Fisher's exact test. Results: Univariate analysis showed that polymorphism of ICAMG241R polymorphism was significantly related to biliary atresia. When compared with the control group the frequency of the allele R241 and the heterozygous genotype R/G241, were significantly increased in patient with biliary atresia (p = 0.008). Also they had significantly more ICAM R/G 241 genotype than patients with chronic liver disease (p = 0.03). Conclusion: ICAM-1 gene Glu241Arg polymorphism is associated with biliary atresia which might therefore represent a functional candidate genes.TABLE