白细胞介素-18基因多态性105A/C与哮喘之间的关联。

Association between interleukin-18 gene polymorphism 105A/C and asthma.

作者信息

Higa S, Hirano T, Mayumi M, Hiraoka M, Ohshima Y, Nambu M, Yamaguchi E, Hizawa N, Kondo N, Matsui E, Katada Y, Miyatake A, Kawase I, Tanaka T

机构信息

Department III of Internal Medicine, Osaka University Medical School, Osaka Department of Pediatrics, Fukui Medical University School of Medicine, Fukui, Japan.

出版信息

Clin Exp Allergy. 2003 Aug;33(8):1097-102. doi: 10.1046/j.1365-2222.2003.01739.x.

DOI:10.1046/j.1365-2222.2003.01739.x

PMID:12911784

Abstract

BACKGROUND

IL-18 has been shown to exert anti-allergic or allergy-promoting activities, but the existence of genetic polymorphisms in the coding regions of IL-18 gene has not been demonstrated.

OBJECTIVE

The aim of this study was to investigate whether polymorphism is present in the coding regions of the IL-18 gene and, if so, to further analyse the association between polymorphism and asthma in a case-control study.

METHODS

We screened the coding regions of the IL-18 gene for polymorphisms by using PCRsingle-stranded conformation polymorphism and direct sequencing of PCR products, followed by analysis of the association between polymorphism and asthma.

RESULTS

We identified one polymorphism (105A/C) in the coding regions. The frequency of the 105A allele was significantly higher in asthmatic patients than in controls (P<0.01; odds ratio (OR)=1.83 (1.37-2.26)). Significant linkage disequilibrium was observed between the 105A/C and -137G/C polymorphisms in the 5' flanking region of the IL-18 gene (D=0.58, P<0.0001). However, in asthmatic patients the 105A allele was not associated with either total serum IgE or IL-18 levels.

CONCLUSION

The 105A/C polymorphism of the IL-18 gene may be associated with the pathogenesis of asthma.

摘要

背景

白细胞介素-18（IL-18）已被证明具有抗过敏或促进过敏的活性，但尚未证实IL-18基因编码区存在基因多态性。

目的

本研究旨在调查IL-18基因编码区是否存在多态性，若存在，则在病例对照研究中进一步分析多态性与哮喘之间的关联。

方法

我们通过聚合酶链反应-单链构象多态性分析及对聚合酶链反应产物进行直接测序，筛查IL-18基因编码区的多态性，随后分析多态性与哮喘之间的关联。

结果

我们在编码区鉴定出一种多态性（105A/C）。哮喘患者中105A等位基因的频率显著高于对照组（P<0.01；优势比（OR）=1.83（1.37 - 2.26））。在IL-18基因5'侧翼区的105A/C与 - 137G/C多态性之间观察到显著的连锁不平衡（D = 0.58，P<0.0001）。然而，在哮喘患者中，105A等位基因与总血清免疫球蛋白E或IL-18水平均无关联。