Tumour necrosis factor-alpha promoter polymorphism in erythema nodosum.
Erythema nodosum is a common skin disease characterized by erythematous, tender subcutaneous nodules, mostly located on the lower extremities. Little is known about its pathogenesis, although a wide variety of aetiological factors (e.g. bacterial and viral infections, neoplastic diseases and drugs) have been described. Sarcoidosis, a typical granulomatous disease, often occurs in association with erythema nodosum (Loefgren syndrome). Since granulomatous diseases have been closely linked to a deregulated tumour necrosis factor (TNF)-alpha production, it was tempting to speculate whether TNF-alpha might play a role in the pathogenesis of erythema nodosum, at least in cases associated with sarcoidosis. A previously described nucleotide exchange, (G-A) at position -308 in the human TNF-alpha gene promoter, has been shown to be a major cause for enhanced TNF-alpha production. In the present report, we investigated the genomic TNF-alpha promoter region in patients suffering from EN with and without underlying sarcoidosis. Our results showed a strong correlation between the uncommon TNF A II allele and sarcoidosis-associated erythema nodosum. Patients with erythema nodosum without underlying sarcoidosis displayed a similar allele frequency compared with controls. Taken together, we provide evidence that erythema nodosum in association with sarcoidosis might be pathogenically linked to altered TNF-alpha production due to a genetic promoter polymorphism.
Labunski
S
S
Department of Dermatology, University of Würzburg, Germany.
Posern
G
G
Ludwig
S
S
Kundt
G
G
Bröcker
E B
EB
Kunz
M
M
D001483:Base Sequence; D004893:Erythema Nodosum / Q000150:complications / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011379:Prognosis; D011401:Promoter Regions, Genetic; D012016:Reference Values; D017565:Sarcoidosis, Pulmonary / Q000150:complications / Q000235:genetics*; D012680:Sensitivity and Specificity; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
D014409:Tumor Necrosis Factor-alpha