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首页> 外文期刊>International journal of immunogenetics >Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma.
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Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma.

机译：高加索支气管哮喘儿童壳三糖苷酶的遗传多态性。

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In humans, two types of chitinases have been identified: chitotriosidase I (CHIT1) and acid mammalian chitinase (AMCase). They are enzymes that cleave chitin, a polysaccharide contained in many different human parasites. So far, only little is known about their function in human and especially in human diseases. Recently we have described association of polymorphisms of AMCase with bronchial asthma in a pediatric population. In this study we were interested in whether CHIT1 is also involved in the genetics of asthma. The amino acid variants Gly102Ser and Ala442Gly, as well as a 24 bp duplication within CHIT1, were typed by means of restriction fragment length polymorphisms on 322 children with asthma and 270 randomly chosen adult controls. Statistical analyses made use of the Armitage's trend test; haplotypes were calculated by FAMHAP and FASTEHPLUS. The amino acid variants showed no association with bronchial asthma. The 24 bp duplication, previously shown to completely demolish CHIT1 activity, was also evenly distributed between asthmatics and controls. Finally, the haplotype showed no association with the disease. We conclude from our results that CHIT1 does not play a major role in the development of bronchial asthma in Caucasian children. The results might also imply that the two human chitinases that have been identified so far have quite distinct functions in human diseases even though they have the same substrate.
机译：在人类中，已鉴定出两种类型的几丁质酶：壳三糖苷酶I（CHIT1）和酸性哺乳动物几丁质酶（AMCase）。它们是裂解几丁质的酶，几丁质是许多不同人类寄生虫中所含的多糖。迄今为止，关于它们在人类特别是在人类疾病中的功能知之甚少。最近，我们已经描述了AMCase多态性与小儿支气管哮喘的相关性。在这项研究中，我们对CHIT1是否也参与哮喘的遗传学感兴趣。氨基酸变异Gly102Ser和Ala442Gly，以及CHIT1中24 bp的重复序列，通过限制性片段长度多态性在322名哮喘儿童和270名随机选择的成人对照中进行了分型。统计分析利用Armitage的趋势检验;通过FAMHAP和FASTEHPLUS计算单倍型。氨基酸变体与支气管哮喘无关。先前显示可完全破坏CHIT1活性的24 bp重复在哮喘患者和对照组之间也均匀分布。最后，单倍型与疾病无关。从我们的结果中可以得出结论，CHIT1在白人儿童的支气管哮喘的发生中不发挥主要作用。该结果也可能暗示，到目前为止，已鉴定的两种人几丁质酶在人类疾病中具有截然不同的功能，即使它们具有相同的底物。

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