Understanding regulation of allergy by human single mutation using knock-in mouse line replacing with atopic type of human sequence

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Human allergic patients have high IgE and IL-4 expression, which are typical phenotypes of allergic responses. We found two single nucleotide mutations (SNPs) in 3’ side of silencer region of Il4 locus, which associate with the IgE responses. We established the substitution knock-in lines introducing non-atopic type of SNPs or atopic type of SNPs in the human silencer region of Il4 locus. We demonstrated that the atopic type of SNPs in the human silencer region of Il4 locus controls higher IgE response, indicating that the atopic type of SNPs would be a strong genetic trait for allergic diseases.