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意大利儿童中与哮喘相关的GSTA1和GSTO2基因的功能多态性

Functional polymorphisms of GSTA1 and GSTO2 genes associated with asthma in Italian children.

作者信息

Piacentini Sara, Verrotti Alberto, Polimanti Renato, Giannini Cosimo, Saccucci Patrizia, Manfellotto Dario, Fuciarelli Maria

机构信息

Department of Biology, University of Rome "Tor Vergata", Rome, Italy.

出版信息

Clin Chem Lab Med. 2011 Oct 31;50(2):311-5. doi: 10.1515/CCLM.2011.774.

Abstract

BACKGROUND

Asthma is an airway disorder characterized by bronchial inflammation. An imbalance between the oxidative forces and the antioxidant defense systems has been implicated in the pathogenesis of asthma. Glutathione S-transferases (GSTs) play an important role in cellular protection against inflammation. Several studies have investigated the genetic variability of GSTM1, GSTP1 and GSTT1 enzymes in asthma development with conflicting results. Moreover, in our previous independent case-control study on GSTs and asthma, we have found that GSTA1 and GSTO2 gene polymorphisms are associated with asthma. The aim of the present study is to analyze if some functional polymorphisms of GSTA1, GSTM1, GSTP1, GSTO2 and GSTT1 are associated with asthma in pediatric patients from Chieti (Italy).

METHODS

In this study, we performed an association study on 127 asthmatic children and 126 controls. We screened single nucleotide polymorphisms at GSTA1, GSTO2 and GSTP1 loci. The effects of GSTM1 and GSTT1 null genotype were also investigated.

RESULTS

The GSTA1*-69T and GSTO2*D142 variants are associated with the significant increased risk of asthma development in our study population, while GSTM1, GSTP1 and GSTT1 genotype distributions were nearly equal between the control group and asthmatics.

CONCLUSIONS

Confirming our previous study, these findings suggest that the GSTA1 and the GSTO2 are asthma susceptible genes involved in increasing the risk of asthma development in the Italian population.

摘要

背景

哮喘是一种以支气管炎症为特征的气道疾病。氧化力与抗氧化防御系统之间的失衡被认为与哮喘的发病机制有关。谷胱甘肽S-转移酶(GSTs)在细胞抵御炎症中起重要作用。多项研究调查了GSTM1、GSTP1和GSTT1酶的基因变异性在哮喘发展中的作用,但结果相互矛盾。此外,在我们之前关于GSTs与哮喘的独立病例对照研究中,我们发现GSTA1和GSTO2基因多态性与哮喘有关。本研究的目的是分析GSTA1、GSTM1、GSTP1、GSTO2和GSTT1的一些功能多态性是否与意大利基耶蒂的儿科患者哮喘有关。

方法

在本研究中,我们对127名哮喘儿童和126名对照进行了关联研究。我们筛查了GSTA1、GSTO2和GSTP1位点的单核苷酸多态性。还研究了GSTM1和GSTT1无效基因型的影响。

结果

在我们的研究人群中,GSTA1*-69T和GSTO2*D142变体与哮喘发展风险显著增加有关,而对照组和哮喘患者之间GSTM1、GSTP1和GSTT1基因型分布几乎相等。

结论

证实了我们之前的研究,这些发现表明GSTA1和GSTO2是哮喘易感基因,参与增加意大利人群患哮喘的风险。

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