Liu X, Nickel R, Beyer K, Wahn U, Ehrlich E, Freidhoff L R, Björkstén B, Beaty T H, Huang S K
Department of Epidemiology, Johns Hopkins University School of Hygiene and Public Health, Baltimore, USA.
J Allergy Clin Immunol. 2000 Jul;106(1 Pt 1):167-70. doi: 10.1067/mai.2000.107935.
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 gE level is important in understanding the genetics of allergic iseases 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.
We sought to examine potential variation at the IL13 gene and estimate its effect on elevated IgE level and atopic dermatitis (AD).
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.
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).
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.
过敏性疾病是当今发达国家发病的主要原因之一,且这些疾病的患病率在稳步上升。研究血清总IgE水平对于理解过敏性疾病的遗传学很重要,因为IgE水平被认为是关键的致病成分。白细胞介素-13(IL-13)在IgE合成的诱导及过敏性疾病的发病机制中起重要作用。
我们试图检测IL13基因的潜在变异,并评估其对IgE水平升高和特应性皮炎(AD)的影响。
我们采用单链构象多态性和DNA测序对IL13基因进行突变分析。利用德国MAS-90队列的受试者进行高IgE表型和AD的病例对照研究。
在4257bp处(第4外显子,G突变为A)鉴定出一种新的IL13编码区变异。对来自MAS-90队列的德国样本进行的病例对照研究显示,A等位基因的存在与两种特应性表型之间存在显著关联:高IgE(比值比,2.38;95%置信区间,1.35 - 4.21;P = 0.0026)和AD(比值比,1.77;95%置信区间,1.06 - 2.96;P = 0.03)。
在白人受试者研究群体中,这种IL13编码区变异可能参与了AD的发病机制以及血清总IgE水平升高的过程。