Berghea Elene Camelia, Popa Luis O, Dutescu Monica I, Meirosu Mihaela, Farcasanu Ileana C, Berghea Florian, Bara Constantin, Popa Olivia M
Department of Immunology and Pathophysiology, Faculty of Medicine, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.
Department of Molecular Biology, "Grigore Antipa" National Museum of Natural History, Bucharest, Romania.
Maedica (Bucur). 2015 Jun;10(2):91-96.
Leukotriene C4 synthase (LTC4S) gene -444A/C polymorphism has been implicated in susceptibility to asthma, but a large number of studies have reported inconclusive results. The aim of this study was to investigate the association between the -444A/C polymorphism of LTC4S gene and asthma, asthma phenotypes (aspirin intolerant/tolerant asthma) and different characteristics of the patients.
We included 106 patients with asthma (60 with aspirin tolerant asthma - ATA, 46 with aspirin intolerant asthma - AIA) and 103 controls. All the subjects were genotyped for LTC4S-444 A/C by Real-Time PCR. We assessed the association of LTC4S promoter polymorphism with asthma and its phenotypes and with clinical and biological characteristics of asthmatic patients.
We did not find a significant association between the studied polymorphism and asthma, but the minor allele tended to be more frequent in AIA patients. We found a significant association between the minor allele C and lower levels of serum total immunoglobulin E and eosinophils, suggesting a possible role of -444A/C LTC4S polymorphism as modulating factor of allergic inflammation in asthma.
The results show that LTC4S -444A/C SNP is not associated with susceptibility to asthma in Romanian patients, but could influence asthma phenotype, namely aspirin intolerant asthma.
白三烯C4合成酶(LTC4S)基因-444A/C多态性与哮喘易感性有关,但大量研究报告的结果尚无定论。本研究旨在探讨LTC4S基因-444A/C多态性与哮喘、哮喘表型(阿司匹林不耐受/耐受哮喘)及患者不同特征之间的关联。
我们纳入了106例哮喘患者(60例阿司匹林耐受哮喘患者 - ATA,46例阿司匹林不耐受哮喘患者 - AIA)和103例对照。通过实时荧光定量PCR对所有受试者的LTC4S-444 A/C进行基因分型。我们评估了LTC4S启动子多态性与哮喘及其表型以及哮喘患者临床和生物学特征之间的关联。
我们未发现所研究的多态性与哮喘之间存在显著关联,但在AIA患者中,次要等位基因的频率往往更高。我们发现次要等位基因C与血清总免疫球蛋白E和嗜酸性粒细胞水平较低之间存在显著关联,这表明-444A/C LTC4S多态性可能作为哮喘中变应性炎症的调节因子发挥作用。
结果表明,LTC4S -444A/C单核苷酸多态性与罗马尼亚患者的哮喘易感性无关,但可能影响哮喘表型,即阿司匹林不耐受哮喘。