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M. Ueta, C. Sotozono, T. Inatomi, J. Hamuro, S. Kinoshita; Association of Combined IL-13/IL-4R Signaling Pathway Gene Polymorphism With Stevens-Johnson Syndrome. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2359. doi: https://doi.org/.
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Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are acute-onset mucocutaneous diseases induced by infectious agents and/or inciting drugs. We previously reported that there is an association between SJS/TEN and IL-4R gene polymorphism which is essential for both IL-4 and IL-13 signaling. To examine IL-4 and IL-13 gene polymorphisms and the combination of these polymorphisms with IL-4R polymorphism, we performed polymorphism analysis.
In 76 Japanese SJS/TEN patients with ocular surface complications and 160 healthy controls, we analyzed polymorphisms of the promoter -590C/T in the IL-4 gene, and of the promoter -1111C/T and Arg110Gln in the IL-13 gene and assessed Gln551Arg in the IL-4R gene. As Arg110Gln affects serum IL-13, plasma IL-13 levels were also examined.
In SJS/TEN, the Arg110Gln SNP of IL-13 were significantly associated and Arg110 alleles were increased significantly. Plasma IL-13 tended to be lower in SJS/TEN patients than the controls. Analysis of the genotype pattern of IL-4R SNP Gln551Arg and IL-13 SNP Arg110Gln showed that the Gln/Gln(A/A) - Arg/Arg(G/G) genotype pattern was strongly associated with SJS/TEN.
IL-13 gene polymorphisms might be associated with SJS/TEN. Our findings suggest that SJS/TEN is different from allergic diseases such as atopy and asthma because the ratio of each allele in the IL-13 SNP Arg110Gln was the opposite of the ratio in atopy and asthma. They also reveal that combined polymorphisms in the IL-13/IL-4R signaling pathway were associated with SJS/TEN.
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