Polymorphisms of the ICAM-1 gene are associated with biliary atresia
Polymorphisms of the ICAM-1 gene are associated with biliary atresia
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DOI：
10.1007/s10620-007-9914-1
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发表时间：
2008-07-01
影响因子：
3.1
通讯作者：
Aydogdu, Sema
中科院分区：
文献类型：
--
作者：
Arikan, Cigdem;Berdeli, Afig;Aydogdu, Sema
炎症是胆道闭锁的一个重要特征，最近的研究表明，其发生在遗传易感宿主中。细胞间粘附分子-1 (ICAM-1) 对于各种炎症的引发和传播至关重要。目的 确定 ICAM-1 基因中损害炎症反应的 Glu241Arg 多态性是否与胆道闭锁相关。方法 2002年2月至2004年11月期间，19名被诊断为胆道闭锁的患者（平均年龄1+/-0.4岁）纳入研究。本研究包括 38 名患有慢性肝病的儿童和一组无关的健康对照者 (n = 123)。知情同意后，采集血液并获得基因组DNA。通过扩增-难治性突变系统聚合酶链反应（ARMSPCR）进行基因分型。通过使用费舍尔精确检验来评估关联性。结果 BA 组 ICAM G242R A 等位基因频率显着高于 CLD 组和健康对照组（分别为 OR = 4.4、95 CI% 1.3-15.1、P = 0.03 和 OR = 4.8 CI% 1.5-15.6、P = 0.01）。单因素分析显示ICAM G241R多态性与胆道闭锁显着相关。 BA组和CLD组PELD评分与ICAM-1基因型之间均无显着相关性。结论 这些结果为ICAM-1 241R 多态性在BA 发病机制中的可能作用提供了证据。
Inflammation is an important feature of biliary atresia, and recent studies suggest that its 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. Aim To determine whether the Glu241Arg polymorphism in the ICAM-1 gene, which impairs inflammatory responses, is associated with biliary atresia. Methods Between February 2002 and November 2004, 19 patients (mean age 1 +/- 0.4 years) diagnosed as biliary atresia were included in the study. Thirty-eight 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 Fischer's exact test. Results ICAM G242R A allele frequency was significantly higher in the BA group than in both the CLD and healthy control groups (OR = 4.4, 95 CI% 1.3-15.1, P = 0.03 and OR = 4.8 CI% 1.5-15.6, P = 0.01, respectively). Univariate analysis showed that polymorphism of ICAM G241R polymorphism was significantly related to biliary atresia. There was not significant correlation between PELD score and ICAM-1 genotypes both in BA and CLD groups. Conclusion These findings provide evidence for the possible role of ICAM-1 241R polymorphism in BA pathogenesis.