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Correlation between LTC4S -444 A>C polymorphism and susceptibility to asthma: A meta-analysis and trial sequential analysis.白三烯C4合成酶基因-444 A>C多态性与哮喘易感性的相关性：一项荟萃分析和试验序贯分析
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The -444A/C polymorphism in the LTC4S gene and the risk of asthma: a meta-analysis.LTC4S 基因中的-444A/C 多态性与哮喘风险：一项荟萃分析。
Arch Med Res. 2012 Aug;43(6):444-50. doi: 10.1016/j.arcmed.2012.08.003. Epub 2012 Aug 10.
2
Association of the -1072G/A polymorphism in the LTC4S gene with asthma in an Indian population.LTC4S 基因-1072G/A 多态性与印度人群哮喘的相关性研究。
Int Arch Allergy Immunol. 2012;159(3):271-7. doi: 10.1159/000336675. Epub 2012 Jun 21.
3
Polymorphisms of the PTGDR and LTC4S influence responsiveness to leukotriene receptor antagonists in Korean children with asthma.PTGDR 和 LTC4S 的多态性影响韩国哮喘儿童对白三烯受体拮抗剂的反应性。
J Hum Genet. 2011 Apr;56(4):284-9. doi: 10.1038/jhg.2011.3. Epub 2011 Feb 10.
4
[Syntropic genes of allergic diseases].
Genetika. 2010 Feb;46(2):255-61.
5
5-Lipoxygenase pathway gene polymorphisms: lack of association with asthma in a Spanish population.5-脂氧合酶途径基因多态性：与西班牙人群哮喘无关。
J Investig Allergol Clin Immunol. 2009;19(6):453-8.
6
The A-444C polymorphism in the leukotriene C4 synthase gene is associated with aspirin-induced urticaria.白三烯C4合成酶基因中的A-444C多态性与阿司匹林诱发的荨麻疹有关。
J Investig Allergol Clin Immunol. 2009;19(5):375-82.
7
[The relevance of leukotriene C(4) synthase gene A (-444) C polymorphism to clinical responsiveness to montelukast in patients with asthma].[白三烯C4合成酶基因A(-444)C多态性与哮喘患者对孟鲁司特临床反应性的相关性]
Zhonghua Jie He He Hu Xi Za Zhi. 2008 Nov;31(11):806-10.
8
PLINK: a tool set for whole-genome association and population-based linkage analyses.PLINK：一个用于全基因组关联分析和基于群体的连锁分析的工具集。
Am J Hum Genet. 2007 Sep;81(3):559-75. doi: 10.1086/519795. Epub 2007 Jul 25.
9
The A-444C polymorphism of leukotriene C4 synthase gene is associated with IgE antibodies to Dermatophagoides pteronyssinus in a Colombian population.白三烯C4合成酶基因的A-444C多态性与哥伦比亚人群中针对尘螨的IgE抗体相关。
J Allergy Clin Immunol. 2007 Feb;119(2):505-7. doi: 10.1016/j.jaci.2006.10.002. Epub 2006 Nov 13.
10
Analysis of 927T> C CYSLTRI and -444A > C LTC4S polymorphisms in patients with asthma.哮喘患者中927T>C CYSLTRI和-444A>C LTC4S基因多态性分析。
J Investig Allergol Clin Immunol. 2006;16(6):331-7.

罗马尼亚人群中白三烯C4合酶A-444C多态性与哮喘及哮喘表型的关联

Association of Leukotriene C4 Synthase A-444C Polymorphism with Asthma and Asthma Phenotypes in Romanian Population.

作者信息

Berghea Elene Camelia, Popa Luis O, Dutescu Monica I, Meirosu Mihaela, Farcasanu Ileana C, Berghea Florian, Bara Constantin, Popa Olivia M

机构信息

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.

出版信息

Maedica (Bucur). 2015 Jun;10(2):91-96.

PMID:28275397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5327799/
Abstract

INTRODUCTION

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.

MATERIAL AND METHODS

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.

RESULTS

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.

CONCLUSION

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.

摘要

引言

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。

材料与方法

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。

结果

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。

结论

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。