RGD Reference Report - Intercellular adhesion molecule-1 polymorphisms in Korean patients with Behcet s disease. - Rat Genome Database

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Intercellular adhesion molecule-1 polymorphisms in Korean patients with Behcet s disease.

Authors: Kim, EH  Mok, JW  Bang, DS  Lee, ES  Lee, SN  Park, KS 
Citation: Kim EH, etal., J Korean Med Sci. 2003 Jun;18(3):415-8.
RGD ID: 8158115
Pubmed: PMID:12808331   (View Abstract at PubMed)
PMCID: PMC3055064   (View Article at PubMed Central)
DOI: DOI:10.3346/jkms.2003.18.3.415   (Journal Full-text)

Intercellular adhesion molecule-1 (ICAM-1) is expressed on vascular endothelial cells and its expression increases during the inflammatory response in patients with active Behcet's disease (BD). The ICAM1 gene mutations are associated with BD in Caucasians, but clinical features of the mutation phenotype are unknown. We analyzed ICAM1 polymorphisms in Korean BD patients to determine if there was an association between particular mutations and clinical symptoms. The prevalence of ICAM1R241G and ICAM1K469E polymorphisms was determined among 197 patients with BD and 248 healthy controls using BsrG1 and BstU1 PCR-RFLP. The frequency of both genotypes ICAM1469 * K/ * E and ICAM-1469 * E/ * E was significantly higher in BD patients compared with controls (66.0% vs 52.4%, p=0.004, OR=1.28, 95% CI 1.08-1.50) and the allele frequency of ICAM1469 * E was higher in patients with skin lesions (0.41), genital ulcers (0.41), vasculitis (0.43), ocular lesions (0.41) and arthritis (0.39) than in controls (0.31). Only one heterozygote, ICAM1241G/R, was detected in BD patients but the ICAM1241 * R mutation was not found in any of the 248 healthy controls. These results show that the ICAM1 mutation is associated with BD susceptibility, and is another genetic risk factor for BD among the Korean population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Behcet's disease susceptibilityIAGP 8158115DNA:polymorphism: :p.K469E (human)RGD 
Behcet's disease susceptibilityISOICAM1 (Homo sapiens)8158115; 8158115DNA:polymorphism: :p.K469E (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