title: 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.affiliation: Department of Dermatology, Medical University of Lodz, Krzemieniecka 5, 94-017 Lodz, Poland. torzecka@poczta.onet.pl
authors.forename: Jolanta Dorota
authors.initials: JD
authors.lastname: Torzecka
authors.forename: Joanna
authors.initials: J
authors.lastname: Narbutt
authors.forename: Anna
authors.initials: A
authors.lastname: Sysa-Jedrzejowska
authors.forename: Maciej
authors.initials: M
authors.lastname: Borowiec
authors.forename: Anetta
authors.initials: A
authors.lastname: Ptasinska
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Woszczek
authors.forename: Marek L
authors.initials: ML
authors.lastname: Kowalski
mesh_terms: D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006684:HLA-DR Antigens / Q000235:genetics; D059811:HLA-DRB1 Chains; D006801:Humans; D008297:Male; D008875:Middle Aged; D010392:Pemphigus / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D014409:Tumor Necrosis Factor-alpha