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Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene

机译:与疾病相关的遗传变异在ADAM33哮喘易感基因中的作用

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摘要

BackgroundADAM33 has been identified as an asthma-associated gene in an out-bred population. Genetic studies suggested that the functional role of this metalloprotease was in airway remodeling. However, the mechanistic roles of the disease-associated SNPs have yet to be elucidated especially in the context of the pathophysiology of asthma. One disease-associated SNP, BC+1, which resides in intron BC toward the 5' end of ADAM33, is highly associated with the disease.
机译:背景ADAM33已被鉴定为远亲群体中与哮喘相关的基因。遗传研究表明,这种金属蛋白酶的功能是在气道重塑中。然而,与疾病相关的SNPs的机制作用尚未阐明,特别是在哮喘的病理生理学背景下。一种与疾病相关的SNP,BC + 1,位于ADAM33 5'末端的内含子BC中,与该疾病高度相关。

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