RGD Reference Report - Association analysis of polymorphisms in IL-3, IL-4, IL-5, IL-9, and IL-13 with Graves' disease. - Rat Genome Database

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Association analysis of polymorphisms in IL-3, IL-4, IL-5, IL-9, and IL-13 with Graves' disease.

Authors: Zhu, W  Liu, N  Zhao, Y  Jia, H  Cui, B  Ning, G 
Citation: Zhu W, etal., J Endocrinol Invest. 2010 Nov;33(10):751-5. Epub 2010 Mar 22.
RGD ID: 5686901
Pubmed: PMID:20332709   (View Abstract at PubMed)
DOI: DOI:10.3275/6937   (Journal Full-text)

BACKGROUND: Graves' disease (GD) is a common autoimmune disorder with genetic predisposition. There is strong evidence that the Chr.5q31-33 region, which contains the immune response cytokine genes [interleukin (IL)-3, IL-4, IL-5, IL-9, and IL-13], is linked to autoimmune thyroid disorders in Chinese and Japanese populations. The aim of the present study is to elucidate whether the single nucleotide polymorphisms (SNP) and the interaction of variants in the 5 genes are associated with the development of GD and Graves' ophthalmopathy (GO). MATERIALS AND METHODS: GD patients (no.=751), with 190 of GO patients and healthy control subjects (no.=748) were included in this study. Six SNP [rs40401 (IL-3), rs2070874 (IL-4), rs2069812 (IL-5), rs1859430 (IL-9), rs2069868 (IL-9), and rs20541 (IL-13)] were genotyped by SNPstream Genotyping System. RESULTS: There was a significant increase of C allele of rs40401 in GD [odds ratio (OR)=1.18 [95% confidence interval (CI): 1.02-1.36], pallele=0.028] and GO [OR=1.30 (95%CI: 1.04-1.63), pallele=0.022] patients compared with those in the controls. The C allele of the rs2069812 was also significantly associated with GD [OR=1.22 (95%CI: 1.04-1.44), pallele=0.015] and GO [OR=1.45 (95%CI: 1.13-1.86), pallele=0.003] patients. Haplotype analysis showed a predominant increase of the 2 SNP (rs40401-rs2069812, CC) and all the 6 SNP (CCCCCC) haplotype in GD (OR=1.70, OR=3.70, respectively) and even stronger in GO (OR=2.18, OR=7.01, respectively) patients. CONCLUSIONS: The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs2069812) were associated with GD and GO susceptibility in Chinese population. The interaction of 6-locus from the 5 genes might confer higher risk for GD and GO than single risk allele.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
IL3HumanGraves ophthalmopathy  IAGP DNA: SNP: : rs40401RGD 
Il3RatGraves ophthalmopathy  ISOIL3 (Homo sapiens)DNA: SNP: : rs40401RGD 
Il3MouseGraves ophthalmopathy  ISOIL3 (Homo sapiens)DNA: SNP: : rs40401RGD 
IL3HumanGraves' disease  IAGP DNA: SNP: : rs40401RGD 
Il3RatGraves' disease  ISOIL3 (Homo sapiens)DNA: SNP: : rs40401RGD 
Il3MouseGraves' disease  ISOIL3 (Homo sapiens)DNA: SNP: : rs40401RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il3  (interleukin 3)

Genes (Mus musculus)
Il3  (interleukin 3)

Genes (Homo sapiens)
IL3  (interleukin 3)


Additional Information