TAP polymorphism in patients with Behçet's disease

• Published in: Annals of the rheumatic diseases Vol. 54; no. 5; pp. 386 - 388
• Main Authors: González-Escribano, M F, Morales, J, García-Lozano, J R, Castillo, M J, Sánchez-Román, J, Núñez-Roldán, A, Sánchez, B
• Format: Journal Article Conference Proceeding
• Language: English
• Published: London BMJ Publishing Group Ltd and European League Against Rheumatism 01.05.1995; BMJ; Elsevier Limited
• Subjects: Adult; Alleles; ATP Binding Cassette Transporter, Subfamily B, Member 2; ATP Binding Cassette Transporter, Subfamily B, Member 3; ATP-Binding Cassette Transporters - genetics; Behcet Syndrome - genetics; Behcet Syndrome - immunology; Biological and medical sciences; Disease Susceptibility; Histocompatibility Testing; HLA-DQ Antigens - genetics; HLA-DQ beta-Chains; HLA-DR Antigens - genetics; HLA-DRB1 Chains; Humans; Linkage Disequilibrium; Medical sciences; Phenotype; Polymerase Chain Reaction; Polymorphism, Genetic; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Human; HLA-System; Skin disease; Genetic inheritance; Stomatology; Major histocompatibility system; Class II histocompatibility antigen; Behçet syndrome; Genital diseases; Eye disease; Gene; Membrane transport; Upper limb; Polymorphism
• ISSN: 0003-4967; 1468-2060
• DOI: 10.1136/ard.54.5.386

OBJECTIVE--To determine if susceptibility to Behçet's disease (BD) is associated with polymorphism of HLA-DRB1, HLA-DQB1, DQB1, and TAP1 and TAP2 genes. METHODS--Fifty eight Spanish BD patients and 116 ethnically matched unrelated healthy subjects were typed at the HLA-DRB1 and HLA-DQB1 loci using polymerase chain reaction/sequence specific oligotyping (PCR/SSO). TAP1 and TAP2 alleles were assigned using amplification refractory mutation system-PCR. RESULTS--TAP1C was absent in BD patients, but was found in 12.1% of control subjects (pcorr < 0.05; relative risk = 0.06). Additionally, a linkage disequilibrium between HLA-DQB1*0501 and TAP2B was observed in BD patients (delta = 0.095, pcorr < 0.02), but not in the control group (delta = -0.0031, p > 0.05). CONCLUSIONS--The complete absence of TAP1C alleles in BD patients may indicate that TAP1 polymorphism is not without some significance in the development of BD. Furthermore, the existence of a linkage disequilibrium between HLA-DQB1*0501 and TAP2B in our patients suggests that the gene conferring susceptibility for BD is inherited as an extended haplotype in the population studied.