Analysis of the association between the abnormal skin and intestinal barrier function and food allergy.

为了验证食物过敏与皮肤屏障功能之间的关系，我们研究了丝聚蛋白（FLG）基因变异与婴儿食物过敏临床表现之间的关系。研究对象是116例怀疑食物过敏并被转诊到藤田保健大学坂文丹医院或其相关设施的婴儿（9个月至14个月）。分析FLG功能缺失突变、FLG基因座的SNPs和拷贝数变异（CNVs）及其与临床表现和实验室检查结果的关系。结果，观察到FLG基因启动子区域中存在的SNP与致敏食物的数量以及鸡蛋和牛奶的ImmnoCAP类别的关联。该SNP被认为与未知的功能丧失突变或影响其表达的启动子活性处于连锁不平衡，这一发现是提示FLG参与食物致敏的新证据。

For the purpose of verifying the relationship between food allergy and the skin barrier function, we examined the association of filaggrin (FLG) gene variation with clinical findings of food allergy in infants.Subjects were 116 cases of infants (9 months to 14 months old) who were suspected food allergy and referred to Fujita Health University Ban Buntane Hotokukai hospital or its related facilities. FLG loss of function mutations, SNPs and copy number variations (CNVs) of FLG locus, were analyzed and their association with clinical findings, and laboratory findings were evaluated. As a result, association of a SNP present in the FLG gene promoter region with number of sensitized foods, and ImmnoCAP class of both egg and milk was observed. This SNP was considered to be in linkage disequilibrium with unknown loss-of-function mutations or promoter activity affecting its expression, and this finding is a new evidence suggesting the involvement of FLG on food sensitization.