Messer G, Kick G, Ranki A, Koskimies S, Reunala T, Meurer M
Department of Dermatology, Ludwig-Maximilians-University, Munich, FRG.
Dermatology. 1994;189 Suppl 1:135-7. doi: 10.1159/000246957.
In 18 patients with dermatitis herpetiformis (DH) of whom 16 were HLA-DR3 positive and 14 had the HLA-B8, -DR3 haplotype, the frequencies of known mutations of the tumor necrosis factor alpha (TNF-alpha) and TNF-beta genes were investigated using restriction fragment length polymorphism analysis and the single-strand conformational polymorphism technique. In DH, the phenotype frequency (28%) and allele frequency (0.58) of the rare TNF-beta allele TNFB1 were significantly increased (normal control 12.4% and 0.37). For the TNF-alpha promoter/enhancer polymorphism, the rare allele TNF2 was more frequent in DH patients (11%, 0.47) compared to controls (2%, 0.16). Since functional studies have associated the rare TNFB1 and TNF2 alleles with a higher secretion of TNF upon activation in vitro, the predominance of these two 'high-response' TNF alleles in DH patients may represent a genetic basis for the chronic inflammatory response in the skin and mucosal tissues of patients with DH.
在18例疱疹样皮炎（DH）患者中，16例为HLA - DR3阳性，14例具有HLA - B8、- DR3单倍型。采用限制性片段长度多态性分析和单链构象多态性技术，研究了肿瘤坏死因子α（TNF -α）和肿瘤坏死因子β（TNF -β）基因已知突变的频率。在DH患者中，罕见的TNF -β等位基因TNFB1的表型频率（28%）和等位基因频率（0.58）显著增加（正常对照分别为12.4%和0.37）。对于TNF -α启动子/增强子多态性，与对照组（2%，0.16）相比，DH患者中罕见等位基因TNF2更为常见（11%，0.47）。由于功能研究表明，罕见的TNFB1和TNF2等位基因与体外激活时较高的TNF分泌有关，这两种“高反应性”TNF等位基因在DH患者中的优势可能代表了DH患者皮肤和黏膜组织慢性炎症反应的遗传基础。
