Over ten genome-wide screens and many candidate genes studies were performed worldwide to elucidate genetic factors involved in the pathogenesis of bronchial asthma and other atopic diseases. Results from these studies were often discordant, which might have reflected complexity and heterogeneity of these multifactorial diseases. Among a variety of other loci, specific variants of the gene for IKAP (IKK complex-associated protein) were shown to be associated with bronchial asthma in children in a Japanese study. To test the possible role of SNPs in the coding region of the IKAP gene in atopic asthma or other atopic phenotypes in a highly homogenous Czech population, a case-control study including 373 patients and 309 healthy control subjects was performed. There were no significant differences in the genotype and allele distributions for any of five SNPs in the IKAP gene (T819C, G2295A, A2490G, T3214A and C3473T) between patients with atopic asthma or other atopic diseases and healthy controls. These results suggest that the polymorphisms in the coding region of the IKAP gene are unlikely to contribute to atopic disease risk in the Czech population.

中文翻译：

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IKAP基因多态性在中欧人群特应性疾病中的作用。

在世界范围内进行了十多个全基因组筛选和许多候选基因研究，以阐明与支气管哮喘和其他特应性疾病的发病机理有关的遗传因素。这些研究的结果常常不一致，这可能反映了这些多因素疾病的复杂性和异质性。在一项日本研究中，在儿童的许多其他基因座中，IKAP（IKK复合物相关蛋白）基因的特定变体显示与支气管哮喘有关。为了测试高度同源的捷克人群中特应性哮喘或其他特应性表型中IKAP基因编码区中SNP的可能作用，进行了一项病例对照研究，包括373名患者和309名健康对照者。特应性哮喘或其他特应性疾病患者与健康对照者之间，IKAP基因中的五个SNP（T819C，G2295A，A2490G，T3214A和C3473T）的基因型和等位基因分布均无显着差异。这些结果表明，IKAP基因编码区的多态性不太可能导致捷克人群特应性疾病的风险。