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

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

Authors: Lee, YJ  Kang, SW  Park, JJ  Bae, YD  Lee, EY  Lee, EB  Song, YW 
Citation: Lee YJ, etal., Hum Immunol. 2006 Oct;67(10):812-8. Epub 2006 Aug 23.
RGD ID: 8655897
Pubmed: PMID:17055358   (View Abstract at PubMed)
DOI: DOI:10.1016/j.humimm.2006.07.012   (Journal Full-text)

Behcet's disease (BD) is an idiopathic systemic inflammatory disease and is considered to be a T helper 1 (Th1) type cytokine driven disorder. Moreover, levels of interleukin-18 (IL-18), a pivotal mediator of Th1 cytokine response, have been reported to be upregulated in BD. Therefore, we investigated the distribution of IL-18 promoter -607 C/A and -137 G/C polymorphisms in 103 BD patients (mean age 41.0 years; 48 male, 55 female) using allele-specific-polymerase chain reaction. As compared with healthy control subjects, BD patients had a significantly higher frequency of the -607 CC genotype (42.7% vs 23.3%, odds ratio [OR] = 2.455, 95% confidence interval [CI] = 1.350-4.461, p(c) = 0.021) and a higher frequency of the -607 C allele (60.7% vs 48.1%, OR = 1.668, 95% CI = 1.129-2.464, p = 0.0101). Haplotype analysis showed that BD patients had significantly less -607A/-137G haplotype (27.3% vs 44.2%, OR = 0.469, 95% CI = 0.268-0.820, p(c) = 0.032) and -607A/-137G haplotype homozygote (5.8% vs 20.4%, OR = 0.242, 95% CI = 0.096-0.612, p(c) = 0.014) than control subjects. In addition, the frequency of -607C/-137G haplotype homozygote was significantly higher in BD patients than control subjects (48.5% vs 20.4%, OR = 3.684, 95% CI = 1.997-6.791, p(c) = 0.0014). Although there were no associations between the polymorphisms and clinical manifestations or severity, patients with the -607 CC genotype or -607C/-137G haplotype homozygote showed significantly earlier symptom development (p = 0.034 by ANOVA; p = 0.009 by t-test, respectively) than those with other genotypes or diplotypes. These results suggest that the IL-18 promoter gene is a candidate susceptibility gene in BD patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Behcet's disease susceptibilityIAGP 8655897DNA:SNPs and haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)RGD 
Behcet's disease susceptibilityISOIL18 (Homo sapiens)8655897; 8655897DNA:SNPs and haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il18  (interleukin 18)

Genes (Mus musculus)
Il18  (interleukin 18)

Genes (Homo sapiens)
IL18  (interleukin 18)

Additional Information