An IL13 coding region variant is associated with a high total serum IgE level and atopic dermatitis in the German Multicenter Atopy Study (MAS-90)
An IL13 coding region variant is associated with a high total serum IgE level and atopic dermatitis in the German Multicenter Atopy Study (MAS-90)
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DOI：
10.1067/mai.2000.107935
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发表时间：
2000-07-01
影响因子：
14.2
通讯作者：
Huang, SK
中科院分区：
文献类型：
--
作者：
Liu, X;Nickel, R;Huang, SK
背景：变态反应性疾病是当今发达国家发病率的主要原因之一，且患病率呈稳步上升趋势。血清总IgE水平的研究对了解变态反应性疾病的遗传学很重要，因为IgE水平被认为是一个关键的致病成分。IL-13在诱导IgE合成和变态反应性疾病的发病机制中起着重要作用。目的：检测IL-13基因的潜在变异，并评估其在特应性皮炎(AD)和IgE水平升高中的作用。方法：采用单链构象多态性和DNA测序方法对IL-13基因进行突变分析。结果：从德国MAS-90队列中发现了一个新的4257bp的IL 13编码区变异(G到A，第4外显子)。来自MAS-90队列的德国样本的病例对照研究表明，A等位基因的存在与两种特应性表型显著相关：高IgE(优势比，2.38；95%可信区间，1.35-4.21；P=.0026)和AD(优势比，1.77；95%可信区间，1.06-2.96；P=.03)。结论：在白人研究人群中，这种IL13编码区变异可能与AD和高血清总IgE水平有关。
Background: Allergic diseases are one of the major causes of morbidity in the developed countries today, and the prevalence of these diseases is increasing steadily. Study of total serum IgE level is important in understanding the genetics of allergic diseases because IgE levels are considered to be a crucial pathogenic component. IL-13 plays an important role in the induction of IgE synthesis and in the pathogenesis of allergic diseases.Objective: We sought to examine potential variation at the IL13 gene and estimate its effect on elevated IgE level and atopic dermatitis (AD),Methods: We conducted mutational analyses of the IL13 gene by using single-stranded conformation polymorphism and DNA sequencing. Case control studies for high-IgE phenotype and AD were performed by using subjects from the German MAS-90 cohort.Results: A novel IL13 coding region variant at 4257 bp (G to A, fourth exon) was identified. Case control studies of a German sample from the MAS-90 cohort showed significant associations between the presence of the A allele and two atopic phenotypes: high IgE (odds ratio, 2.38; 95% confidence interval, 1.35-4.21; P = .0026) and AD (odds ratio, 1.77; 95% confidence interval, 1.06-2.96; P = .03),Conclusion: This IL13 coding region variant may be involved in the pathogenesis of AD and high total serum IgE level in a study population of white subjects.