RGD Reference Report - Association of polymorphisms in genes encoding IL-4, IL-13 and their receptors with atopic dermatitis in a Korean population. - Rat Genome Database

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Association of polymorphisms in genes encoding IL-4, IL-13 and their receptors with atopic dermatitis in a Korean population.

Authors: Namkung, JH  Lee, JE  Kim, E  Kim, HJ  Seo, EY  Jang, HY  Shin, ES  Cho, EY  Yang, JM 
Citation: Namkung JH, etal., Exp Dermatol. 2011 Nov;20(11):915-9. doi: 10.1111/j.1600-0625.2011.01357.x. Epub 2011 Sep 14.
RGD ID: 5684364
Pubmed: PMID:21913997   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1600-0625.2011.01357.x   (Journal Full-text)

Th2-dominated immune responses are believed to contribute to the pathogenesis of atopic dermatitis (AD). IL-4 and IL-13 are typical pleiotropic Th2 cytokines that play a central role in IgE-dependent inflammatory reactions. Single-nucleotide polymorphisms (SNPs) in IL-4 and IL-13 have been reported in patients with allergic disease from numerous countries. Gene-gene interactions among genes have been identified in patients with asthma, although negative results have been reported. To investigate the associations of SNPs in these genes and the interactions between these genes in AD, we genotyped 23 SNPs of the IL-4, IL-13, IL-4R, IL-13Ralpha1 and IL-13Ralpha2 genes for 1089 case-control samples (631 AD patients and 458 controls) and analysed the SNPs and haplotypes in these genes. We also searched for gene-gene interactions among these five genes. Our data identified an association between rs3091307 and rs20541 in the IL-13 gene and between rs2265753 and rs2254672 in the IL-13Ralpha1 gene and the AD phenotype. In particular, three of the four SNPs were especially predictive of the allergic type of AD (ADe), and the haplotype TCGG in the IL-13Ralpha1 gene showed significant association with AD, especially ADe. Furthermore, the combination of rs3091307 GG/ rs2265753 GG (IL-13/IL-13Ralpha1) conveyed a significantly higher risk for developing ADe. However, we did not identify any SNPs in the IL-4, IL-4R and IL-13Ralpha2 genes that were associated with AD. As IL-13Ralpha1 is most likely expressed in Th17 cells rather than in Th2 cells, these data suggest diversity in the classification of Th cells that needs to be verified in future studies.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
atopic dermatitis  IAGP 5684364DNA:SNPs: :rs3091307 and rs20541 (human)RGD 
atopic dermatitis  ISOIL13 (Homo sapiens)5684364; 5684364DNA:SNPs: :rs3091307 and rs20541 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il13  (interleukin 13)

Genes (Mus musculus)
Il13  (interleukin 13)

Genes (Homo sapiens)
IL13  (interleukin 13)


Additional Information