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台湾人群中白细胞介素-4启动子多态性与哮喘或高反应性严重程度之间的关联。

Association between the IL-4 promoter polymorphisms and asthma or severity of hyperresponsiveness in Taiwanese.

作者信息

Chiang Chi-Huei, Tang Ying-Chuan, Lin Ming-Wei, Chung Ming-Yi

机构信息

Chest Department, Taipei Veterans General Hospital, Taipei, Taiwan.

出版信息

Respirology. 2007 Jan;12(1):42-8. doi: 10.1111/j.1440-1843.2006.00960.x.

Abstract

BACKGROUND AND OBJECTIVES

Recent family-based studies have revealed a linkage between human chromosome 5q31 and asthma, elevated serum IgE levels and airway hyperresponsiveness (AHR). Among the candidate genes in this region is the gene encoding IL-4. This gene could be a candidate gene for asthma. The aim of this prospective case-control study was to assess the frequency of polymorphisms in the IL-4 gene promoter among asthmatic patients from Taiwan.

METHODS

The study consisted of 167 patients with asthma and 111 healthy subjects. PCR amplification followed by Bsm F1 restriction digestion were used to assign genotypes at the IL-4 promoter C-589T locus. Pulmonary function tests, methacholine challenge tests, total IgE, specific IgE antibodies against common inhalant allergens and total eosinophil counts were assessed in asthmatic patients.

RESULTS

The T allele frequency for the C-589T IL-4 gene promoter in asthma patients was higher than for normal subjects (P < 0.0001). The frequency discrepancy was found to be even higher for asthmatic patients with severe AHR (P < 0.05). There were no significant differences for the T allele frequency among asthmatic patients with the various other phenotypes such as high versus normal total eosinophil, high versus normal total IgE and high versus normal levels of specific IgE against mite, cockroach or cat dander, or dog dander.

CONCLUSIONS

Polymorphism in the promoter of the IL-4 gene is associated with asthma and is a disease modifier in terms of the severity of AHR.

摘要

背景与目的

最近基于家系的研究揭示了人类5号染色体q31区域与哮喘、血清IgE水平升高及气道高反应性(AHR)之间的联系。该区域的候选基因之一是编码IL-4的基因。此基因可能是哮喘的候选基因。这项前瞻性病例对照研究的目的是评估台湾哮喘患者中IL-4基因启动子多态性的频率。

方法

该研究包括167例哮喘患者和111名健康受试者。采用聚合酶链反应(PCR)扩增后进行Bsm F1限制性酶切,以确定IL-4启动子C-589T位点的基因型。对哮喘患者进行肺功能测试、乙酰甲胆碱激发试验、总IgE、针对常见吸入性过敏原的特异性IgE抗体以及总嗜酸性粒细胞计数评估。

结果

哮喘患者中IL-4基因启动子C-589T的T等位基因频率高于正常受试者(P < 0.0001)。对于重度AHR的哮喘患者,该频率差异甚至更高(P < 0.05)。在具有其他各种表型的哮喘患者中,如总嗜酸性粒细胞高与正常、总IgE高与正常以及针对螨虫、蟑螂、猫皮屑或狗皮屑的特异性IgE水平高与正常之间,T等位基因频率没有显著差异。

结论

IL-4基因启动子多态性与哮喘相关,并且就AHR的严重程度而言是一种疾病修饰因素。

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