Tumour necrosis factor-α polymorphism as one of the complex inherited factors in pemphigus

Author： Dorota Torzecka Jolanta Narbutt Joanna Sysa-jedrzejowska Anna Borowiec Maciej Ptasinska Anetta Woszczek Grzegorz L. Kowalski Marek

Publisher： Informa Healthcare

ISSN： 1466-1861

Source： Mediators of Inflammation, Vol.12, Iss.5, 2003-10, pp. : 303-307

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Abstract

The aim of our study was to analyse a significance of tumour necrosis factor (TNF)-α promoter gene polymorphisms in relation to the HLA-DR locus in genetic predisposition to pemphigus. TNF-α gene polymorphisms in position -238 and -308 were identified using a modified polymerase chain reaction-restriction fragment length polymorphism method in 53 patients with pemphigus (38 with pemphigus vulgaris, 15 with pemphigus foliaceus) and 87 healthy controls. The HLA-DRB1 locus was typed using the polymerase chain reaction SSO method in all the patients and 152 population controls.Carriers of the TNF-α polymorphic -308 A allele were found to be more frequent in the pemphigus foliaceus group in comparison with the control group (odds ratio (OR)=8.12; p=0.0005). A significant association between HLA-DRB1*04 (OR=3.86; pcor=0.0001) and DRB1*14 (OR=8.4; pcor=0.0001) and pemphigus vulgaris was found. In this group of patients a decreased frequency of HLA-DRB1*07 (OR=0.08; pcor=0.006) was also identified.We have shown for the first time a positive association of TNF-α polymorphism in position -308 with pemphigus foliaceus.