Polymorphism of the Tumor Necrosis Factor Genes in Patients with Dermatitis herpetiformis
作者:
G. Messer,
G. Kick,
A. Ranki,
S. Koskimies,
T. Reunala,
M. Meurer,
期刊:
Dermatology
(Karger Available online 1994)
卷期:
Volume 189,
issue 1
页码: 135-137
ISSN:1018-8665
年代: 1994
DOI:10.1159/000246957
出版商: S. Karger AG
关键词: Dermatitis herpetiformis;HLA association;Tumor necrosis factorα;Tumor necrosis factorβ;Gene polymorphism
数据来源: Karger
摘要:
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 α (TNF-α) and TNF-β 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-β allele TNFB*1 were significantly increased (normal control 12.4% and 0.37). For the TNF-α 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 TNFB*1 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
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