The genetics of asthma and allergic disease: a 21st century perspective.
The genetics of asthma and allergic disease: a 21st century perspective.
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DOI：
10.1111/j.1600-065x.2011.01029.x
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发表时间：
2011-07
影响因子：
8.7
通讯作者：
Yao TC
中科院分区：
文献类型：
--
作者：
Ober C;Yao TC
哮喘和过敏是常见的疾病，其病因复杂，涉及遗传和环境因素。最近的全基因组关联研究（GWAS）和GWAS的荟萃分析已经开始阐明导致哮喘和过敏性疾病的常见和不同途径。与编码上皮细胞源性细胞因子白细胞介素-33（IL-33）和胸腺基质淋巴细胞生成素（TSLP）的基因变异以及编码IL-33受体ST 2的IL 1 RL 1基因的相关性强调了先天免疫反应途径的核心作用，这些途径促进了哮喘和过敏性疾病发病机制中辅助性T细胞2（Th 2）的激活和分化。相反，编码ORMDL 3和GSDML基因的17 q21哮喘基因座的变异与儿童期发作哮喘的风险特别相关。这些和其他遗传学发现提供了一系列经过充分验证的哮喘和过敏易感基因，这些基因正在扩大我们对这些相关疾病中失调的常见和独特生物学途径的理解。正在进行的研究将继续扩大我们对哮喘和过敏的理解，并揭示这些复杂特征的发展机制。
Asthma and allergy are common conditions with complex etiologies involving both genetic and environmental contributions. Recent genome-wide association studies (GWAS) and meta-analyses of GWAS have begun to shed light on both common and distinct pathways that contribute to asthma and allergic diseases. Associations with variation in genes encoding the epithelial cell-derived cytokines, interleukin-33 (IL-33) and thymic stromal lymphopoietin (TSLP), and the IL1RL1 gene encoding the IL-33 receptor, ST2, highlight the central roles for innate immune response pathways that promote the activation and differentiation of T-helper 2 (Th2) cells in the pathogenesis of both asthma and allergic diseases. In contrast, variation at the 17q21 asthma locus, encoding the ORMDL3 and GSDML genes, is specifically associated with risk for childhood onset asthma. These and other genetic findings are providing a list of well-validated asthma and allergy susceptibility genes that are expanding our understanding of the common and unique biological pathways that are dysregulated in these related conditions. Ongoing studies will continue to broaden our understanding of asthma and allergy and unravel the mechanisms for the development of these complex traits.