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ADAM33基因及相关单核苷酸多态性在哮喘中的作用

Role of ADAM33 gene and associated single nucleotide polymorphisms in asthma.

作者信息

Sharma Neeraj, Tripathi Priya, Awasthi Shally

机构信息

Department of Pediatrics, Chhatrapati Shahuji Maharaj Medical University, Lucknow, Uttar Pradesh, India.

出版信息

Allergy Rhinol (Providence). 2011 Apr;2(2):e63-70. doi: 10.2500/ar.2011.2.0018.

DOI:10.2500/ar.2011.2.0018
PMID:22852121
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3390120/
Abstract

Asthma is a multifactorial disorder, primarily resulting from interactions between genetic and environmental factors. ADAM33 gene (located on chromosome 20p13) has been reported to play an important role in asthma. This review article is intended to include all of the publications, to date, which have assessed the association of ADAM33 gene polymorphisms as well as have shown the role of ADAM33 gene in airway remodeling and their expression with asthma. A PubMed search was performed for studies published between 1990 and 2010. The terms "ADAM33," "ADAM33 gene and asthma," and "ADAM33 gene polymorphisms" were used as search criteria. Based on available literature we can only speculate its role in the morphogenesis and functions of the lung. Fourteen studies conducted in different populations were found showing an association of ADAM33 gene polymorphisms with asthma. However, none of the single nucleotide polymorphisms (SNPs) of ADAM33 gene had found association with asthma across all ethnic groups. Because higher expression of ADAM33 is found in the fibroblast and smooth muscle cells of the lung, over- or underexpression of ADAM33 gene may result in alterations in airway remodeling and repair processes. However, no SNP of ADAM33 gene showed significant associations with asthma across all ethnic groups; the causative polymorphism, if any, still has to be identified.

摘要

哮喘是一种多因素疾病,主要由遗传和环境因素之间的相互作用引起。据报道,ADAM33基因(位于20号染色体p13区)在哮喘中起重要作用。这篇综述文章旨在涵盖迄今为止所有评估ADAM33基因多态性的关联以及显示ADAM33基因在气道重塑中的作用及其与哮喘表达关系的出版物。对1990年至2010年间发表的研究进行了PubMed搜索。搜索标准为“ADAM33”、“ADAM33基因与哮喘”以及“ADAM33基因多态性”。根据现有文献,我们只能推测其在肺的形态发生和功能中的作用。在不同人群中进行的14项研究发现ADAM33基因多态性与哮喘有关联。然而,在所有种族群体中,尚未发现ADAM33基因的单核苷酸多态性(SNP)与哮喘有关联。由于在肺的成纤维细胞和平滑肌细胞中发现ADAM33表达较高,ADAM33基因的过表达或低表达可能导致气道重塑和修复过程的改变。然而,在所有种族群体中,没有一个ADAM33基因的SNP与哮喘有显著关联;如果存在致病多态性,仍有待确定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b120/3390120/1bc7583cccf7/arh0021100180003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b120/3390120/6088672edc7a/arh0021100180001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b120/3390120/5127bd9e6a74/arh0021100180002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b120/3390120/1bc7583cccf7/arh0021100180003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b120/3390120/6088672edc7a/arh0021100180001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b120/3390120/5127bd9e6a74/arh0021100180002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b120/3390120/1bc7583cccf7/arh0021100180003.jpg

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