RGD Reference Report - Interleukin-18 gene polymorphisms in Korean patients with Behcet's disease. - Rat Genome Database

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Interleukin-18 gene polymorphisms in Korean patients with Behcet's disease.

Authors: Jang, WC  Park, SB  Nam, YH  Lee, SS  Kim, JW  Chang, IS  Kim, KT  Chang, HK 
Citation: Jang WC, etal., Clin Exp Rheumatol. 2005 Jul-Aug;23(4 Suppl 38):S59-63.
RGD ID: 8655910
Pubmed: PMID:16273766   (View Abstract at PubMed)

OBJECTIVE: There is strong evidence that Th1-type cytokines play an important role in the pathogenesis of Behcet's disease (BD). Interleukin (IL)-18 is a proinflammatory cytokine that mediates Th1-polarized immune responses, and elevated levels of IL-18 have been observed in the sera and bronchoalveolar lavage fluid of patients with active BD. Therefore, the aim of this study was to investigate the potential associations of two single nucleotide polymorphisms (SNPs) at positions -137 (G/C) and -607 (C/A) in the promoter region of the IL-18 gene with a susceptibility to BD in the Korean population. METHODS: Ninety-eight patients with BD and 105 healthy controls were studied. All of the subjects were genotyped using sequence specific PCR. The genotypes and alleles between patients with BD and controls were compared using the chi2 test, together with Yate's correction where appropriate. Haplotype analysis was assessed using the EH program. RESULTS: The genotype and allele distributions of the two SNPs did not differ significantly between patients with BD and controls. The haplotype frequencies of the IL-18 promoter polymorphisms were also similar between patients with BD and controls. However, the frequency of the GG genotype at position -137 was significantly higher in BD patients with ocular lesions than in those without ocular lesions (p = 0.026, pc = 0.048, OR = 4.1). CONCLUSION: Although the IL-18 gene polymorphisms were not associated with a susceptibility to BD in the Korean population, the patients carrying the GG genotype at position -137 had a higher risk of developing the ocular lesions. Further studies in other populations are required to confirm these results.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Behcet's disease no_associationIAGP 8655910DNA:SNP and haplotype:promoter:-607C>A (rs1946518) (human)RGD 
Behcet's disease no_associationISOIL18 (Homo sapiens)8655910; 8655910DNA:SNP and haplotype:promoter:-607C>A (rs1946518) (human)RGD 
eye disease susceptibilityIAGP 8655910associated with Behcet Syndrome and DNA:SNP:promoter:-137G>C (rs187238) (human)RGD 
eye disease susceptibilityISOIL18 (Homo sapiens)8655910; 8655910associated with Behcet Syndrome and DNA:SNP:promoter:-137G>C (rs187238) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il18  (interleukin 18)

Genes (Mus musculus)
Il18  (interleukin 18)

Genes (Homo sapiens)
IL18  (interleukin 18)


Additional Information