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

Abstract

The aim of our study was to analyse a significance of tumour necrosis factor (TNF)-alpha promoter gene polymorphisms in relation to the HLA-DR locus in genetic predisposition to pemphigus. TNF-alpha 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-alpha 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-alpha polymorphism in position -308 with pemphigus foliaceus.

• Authors: Jolanta Dorota Torzecka, Joanna Narbutt, Anna Sysa-Jedrzejowska, Maciej Borowiec, Anetta Ptasinska, Grzegorz Woszczek, Marek L Kowalski
• Journal: Mediators of inflammation (Mediators Inflamm) Vol. 12 Issue 5 Pg. 303-7 (Oct 2003) ISSN: 0962-9351 [Print] United States
• PMID: 14760938 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• HLA-DR Antigens
• HLA-DRB1 Chains
• Tumor Necrosis Factor-alpha

Topics

• Female
• Gene Frequency
• Genotype
• HLA-DR Antigens (genetics)
• HLA-DRB1 Chains
• Humans
• Male
• Middle Aged
• Pemphigus (genetics)
• Polymorphism, Genetic
• Promoter Regions, Genetic (genetics)
• Tumor Necrosis Factor-alpha (genetics)