白细胞介素-4 受体多态性与哮喘和过敏：与不同疾病表型的关系。
Interleukin-4 receptor polymorphisms in asthma and allergy: relation to different disease phenotypes.
机构信息
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, Gothenburg, Sweden.
出版信息
Acta Paediatr. 2010 Mar;99(3):399-403. doi: 10.1111/j.1651-2227.2009.01631.x. Epub 2009 Dec 11.
AIM
Inheritance and genetic factors are supposed to influence susceptibility to asthma and allergy. We tested if single nucleotide polymorphisms (SNPs) in the IL4R gene were associated with susceptibility to such diseases, or if they were related to the phenotypic presentation of asthma and allergic rhinoconjunctivitis (ARC).
METHODS
Three hundred and nine 12- to 13-year-old children were included. Six SNPs in the IL4R were analysed in response to current allergic disease, and to presentation of specific asthma and ARC phenotypes. Questionnaires were used to determine allergic disease status, and skin prick tests to evaluate sensitization to common airborne allergens.
RESULTS
Less eczema was seen in individuals with the AA-genotype of rs2057768, and less ARC among those with the AA-genotype of rs2107356, especially ARC associated with sensitization to pollen. The AA-genotype of rs2057768 and the TT genotype of rs3024632 were associated with a specific asthma phenotype.
CONCLUSION
Variations within the IL4R gene are associated with allergic diseases in children, preferably with eczema and disease phenotypes of ARC and asthma.
目的
遗传和基因因素被认为会影响哮喘和过敏的易感性。我们测试了白细胞介素 4 受体（IL4R）基因中的单核苷酸多态性（SNPs）是否与这些疾病的易感性相关，或者它们是否与哮喘和变应性鼻结膜炎（ARC）的表型表现有关。
方法
纳入了 309 名 12 至 13 岁的儿童。针对当前的过敏性疾病以及特定的哮喘和 ARC 表型表现，分析了 IL4R 中的 6 个 SNPs。使用问卷确定过敏疾病状态，皮肤点刺试验评估对常见空气过敏原的致敏情况。
结果
rs2057768 的 AA 基因型个体的湿疹较少，rs2107356 的 AA 基因型个体的 ARC 较少，尤其是与花粉致敏相关的 ARC。rs2057768 的 AA 基因型和 rs3024632 的 TT 基因型与特定的哮喘表型相关。
结论
IL4R 基因内的变异与儿童的过敏性疾病有关，最好与湿疹和 ARC 以及哮喘的疾病表型有关。
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