The chitinase and chitinase-like proteins: a review of genetic and functional studies in asthma and immune-mediated diseases.
The chitinase and chitinase-like proteins: a review of genetic and functional studies in asthma and immune-mediated diseases.
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DOI：
10.1097/aci.0b013e3283306533
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发表时间：
2009-10
影响因子：
2.8
通讯作者：
Chupp GL
中科院分区：
文献类型：
--
作者：
Ober C;Chupp GL
本文综述了几丁质酶和几丁质酶样蛋白，几丁三糖苷酶(CHIT1)、YKL-40和酸性哺乳动物几丁质酶(AMCase)，并分别综述了编码这些蛋白的基因CHIT1、CHI3L1和CHIA在哮喘和免疫介导性疾病中的遗传研究。CHIT1、CHIA和CHI3L1基因的多态分别影响壳三糖酶活性、AMCase活性和YKL-40水平。CHI3L1的调节性SNPs与哮喘、特应性和免疫介导性疾病相关，CHIA中的非同义SNPs与哮喘相关。没有CHIT1基因的多态，包括常见的无功能的24个碱基重复等位基因，与哮喘相关。这些基因代表了新的哮喘易感基因。CHI3L1和CHIA的变异与哮喘风险有关。CHIT1基因的多态还没有与哮喘相关，但很少有研究报道。鉴于几丁糖苷酶是呼吸道中的主要几丁质酶，而且在许多人群中存在一个常见的非功能等位基因，因此对该基因的进一步研究也是必要的。最后，对这三种基因的研究需要在不同祖先的人群中进行。
This review provides an overview of the chitinase and chitinase-like proteins, chitotriosidase (CHIT1), YKL-40, and acid mammalian chitinase (AMCase), and to summarize the genetic studies of asthma and immune mediated diseases with polymorphisms in the genes encoding these proteins: CHIT1, CHI3L1, and CHIA, respectively. Polymorphisms in the CHIT1, CHIA, and CHI3L1 genes influence chitotriosidase enzyme activity, AMCase activity, and YKL-40 levels, respectively. Regulatory SNPs in CHI3L1 were also associated with asthma, atopy, and immune-mediated diseases, and nonsynonymous SNPs in CHIA were associated with asthma. No CHIT1 polymorphisms, including a common nonfunctional 24-bp duplication allele, have been associated with asthma. These genes represent novel asthma susceptibility genes. Variation in CHI3L1 and CHIA have been associated with asthma risk. Polymorphisms in CHIT1 have not yet been associated with asthma, but few studies have been reported. Given that chitotriosidase is the major chitinase in the airways and a common nonfunctional allele is present in many populations, additional studies of this gene are also warranted. Lastly, studies of all three genes need to be conducted in populations of diverse ancestries.