Luszawska-Kutrzeba T
Samodzielnej Pracowni Farmakokinetyki i Terapii Monitorowanej, Pomorskiej Akademii Medycznej w Szczecinie.
Ann Acad Med Stetin. 1999;45:109-21.
There are still uncertainties as to the mechanism of many pathological conditions, among them atopic diseases. It has been disclosed that NAT2 demonstrates genetic polymorphism and that the rate of acetylation catalyzed by this enzyme varies from subject to subject. The rate of acetylation appears to be an independent variable, specific for a given individual, genetically determined and associated with a dysfunction of the immune system. Therefore it is an important determinant of atopic diseases. So far, the NAT2* genotype has not been studied in patients with atopy and the results of some investigations on the rate of acetylation in allergy remain equivocal. The aim of this work was to evaluate the frequency of the NAT2* genotype in children with atopic diseases, particularly bronchial asthma, in their first-degree relatives and in healthy children. Furthermore, it was decided to check whether the NAT2* genotype may serve as a predispositing factor to atopy and whether the acetylation polymorphism is associated with the clinical course of these diseases. The study was performed in 266 children, including 85 patients with atopy and 181 healthy controls. Genomic DNA was isolated from peripheral blood and the NAT2* genotype was determined using PCR and restrictase digestion. The results shows that the NAT2* genotype, which is characteristic of slow acetylation, is an important risk factor in atopy, particularly bronchial asthma. A link between the clinical course of atopy and slow acetylation has been suggested.
许多病理状况的发病机制仍不明确,其中包括特应性疾病。现已发现,NAT2存在基因多态性,该酶催化的乙酰化速率因人而异。乙酰化速率似乎是一个独立变量,对于特定个体具有特异性,由基因决定且与免疫系统功能障碍相关。因此,它是特应性疾病的一个重要决定因素。到目前为止,尚未对特应性患者的NAT2基因型进行研究,一些关于过敏中乙酰化速率的调查结果仍不明确。这项研究的目的是评估患有特应性疾病(尤其是支气管哮喘)的儿童及其一级亲属以及健康儿童中NAT2基因型的频率。此外,还决定检查NAT2基因型是否可能是特应性的易感因素,以及乙酰化多态性是否与这些疾病的临床病程相关。该研究对266名儿童进行,其中包括85名特应性患者和181名健康对照。从外周血中分离基因组DNA,并使用聚合酶链反应(PCR)和限制性酶切消化来确定NAT2基因型。结果表明,NAT2*基因型是慢乙酰化的特征,是特应性疾病(尤其是支气管哮喘)的一个重要危险因素。已经有人提出特应性的临床病程与慢乙酰化之间存在联系。