RGD Reference Report - Polymorphisms of the ICAM-1 gene are associated with biliary atresia. - Rat Genome Database

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Polymorphisms of the ICAM-1 gene are associated with biliary atresia.

Authors: Arikan, Cigdem  Berdeli, Afig  Kilic, Murat  Tumgor, Gokhan  Yagci, Rasit V  Aydogdu, Sema 
Citation: Arikan C, etal., Dig Dis Sci. 2008 Jul;53(7):2000-4. doi: 10.1007/s10620-007-9914-1. Epub 2008 Apr 10.
RGD ID: 14402043
Pubmed: PMID:18401716   (View Abstract at PubMed)
DOI: DOI:10.1007/s10620-007-9914-1   (Journal Full-text)


UNLABELLED: 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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ICAM1Humanbiliary atresia susceptibilityIAGP DNA:missense mutation:cds:p.G241R (human)RGD 
Icam1Ratbiliary atresia susceptibilityISOICAM1 (Homo sapiens)DNA:missense mutation:cds:p.G241R (human)RGD 
Icam1Mousebiliary atresia susceptibilityISOICAM1 (Homo sapiens)DNA:missense mutation:cds:p.G241R (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Icam1  (intercellular adhesion molecule 1)

Genes (Mus musculus)
Icam1  (intercellular adhesion molecule 1)

Genes (Homo sapiens)
ICAM1  (intercellular adhesion molecule 1)


Additional Information