Medical Biochemistry Department, Zagazig University, Zagazig, Egypt.
Gene. 2012 Apr 15;497(2):314-9. doi: 10.1016/j.gene.2012.01.059. Epub 2012 Feb 1.
Asthma is a complex multifactorial disease with an obvious genetic predisposition. Polymorphisms of the glutathione-S-transferase (GST) genes are known risk factors for some environmentally-related diseases. The aim of the present study was to investigate the role of polymorphisms in the GSTT1, GSTM1 and GSTP1 genes and asthma susceptibility in Egyptian children, and to analyze their effect on GST activity and lung function.
GSTT1 and GSTM1 gene polymorphism was genotyped using the multiplex polymerase chain reaction (PCR) and GSTP1 ILe105Val polymorphism was determined using PCR-restriction fragment length polymorphism (PCR-RFLP) in 168 healthy and 126 asthmatic children (82 atopic and 44 nonatopic). Also GST enzyme activity and lung function were evaluated.
Asthmatic children had a significant higher prevalence of the GSTM1 null (P=0.003) and significant lower prevalence of GSTP1 Val/Val genotypes (P=0.02) than control group. Lung function was significantly decreased in GSTM1 null genotype and GSTP1 Ile/Ile genotype. GSTP1 Val/Val genotypes and GSTM1 null genotype had a significant decrease in plasma GST activity.
GST genes polymorphisms may play an important role in pathogenesis and susceptibility to asthma in children.
哮喘是一种复杂的多因素疾病，具有明显的遗传易感性。谷胱甘肽-S-转移酶（GST）基因的多态性是一些与环境相关疾病的已知危险因素。本研究旨在探讨 GSTT1、GSTM1 和 GSTP1 基因多态性与埃及儿童哮喘易感性的关系，并分析其对 GST 活性和肺功能的影响。
采用多重聚合酶链反应（PCR）检测 GSTT1 和 GSTM1 基因多态性，PCR-限制性片段长度多态性（PCR-RFLP）检测 GSTP1 ILe105Val 多态性，共纳入 168 名健康儿童和 126 名哮喘儿童（82 名特应性和 44 名非特应性）。同时评估 GST 酶活性和肺功能。
哮喘儿童 GSTM1 缺失（P=0.003）和 GSTP1 Val/Val 基因型（P=0.02）的发生率显著高于对照组。GSTM1 缺失基因型和 GSTP1 Ile/Ile 基因型的肺功能显著降低。GSTP1 Val/Val 基因型和 GSTM1 缺失基因型的血浆 GST 活性显著降低。
GST 基因多态性可能在儿童哮喘的发病机制和易感性中起重要作用。
