Kawashima T, Noguchi E, Arinami T, Yamakawa-Kobayashi K, Nakagawa H, Otsuka F, Hamaguchi H
Department of Dermatology, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan.
J Med Genet. 1998 Jun;35(6):502-4. doi: 10.1136/jmg.35.6.502.
We examined linkage between markers at and near the IL4 gene and atopic dermatitis (AD) in 88 Japanese nuclear families. Affected sib pair analysis suggested linkage between the IL4 gene and AD (SPLINK lod=2.28). Transmission disequilibrium testing showed a significantly preferential transmission to AD offspring of the T allele of the -590C/T polymorphism of the IL4 gene (p=0.001). A case-control comparison suggested a genotypic association of the TT genotype with AD (odds ratio=1.88, p=0.01). Since the T allele was reported to be associated with increased IL4 gene promoter activity compared with the C allele, our data indicate that genetic differences in transcriptional activity of the IL4 gene influence AD predisposition, particularly in Japanese, because of a high frequency of the T allele.
我们在88个日本核心家庭中研究了白细胞介素4（IL4）基因及其附近的标记与特应性皮炎（AD）之间的连锁关系。受累同胞对分析表明IL4基因与AD之间存在连锁关系（SPLINK对数优势比=2.28）。传递不平衡检验显示，IL4基因-590C/T多态性的T等位基因向AD后代的传递具有显著的优先性（p=0.001）。病例对照比较表明TT基因型与AD存在基因型关联（优势比=1.88，p=0.01）。由于据报道T等位基因与IL4基因启动子活性增加有关，与C等位基因相比，我们的数据表明IL4基因转录活性的遗传差异影响AD易感性，特别是在日本人中，因为T等位基因的频率较高。
