title: Human leukocyte antigen-DRB1 and -DQB1 genotyping in lupus patients with and without antiphospholipid syndrome.
abstract: We investigated the genetic background regarding major histocompatibility complex (MHC) II alleles in patients with systemic lupus erythematosus (SLE) only, in patients with SLE with secondary antiphospholipid syndrome (SLE+SAPS), and in patients whose clinical course began as primary antiphospholipid syndrome (PAPS) and subsequently progressed to SLE (PAPS+SLE) in order to explain the phenotypical differences found in our previous study. Those with primary or secondary APS present more thrombotic and less inflammatory activity. Fetal wastage was the highest in the PAPS+SLE group. We performed human leukocyte antigen (HLA)-DRB1 and HLA-DQB1 genotyping in 63 patients (26, 22, and 15 in SLE only, SLE+SAPS, and PAPS+SLE groups, respectively) and in 57 healthy controls, using PCR with sequence-specific primers. We found that, as reported in the literature, the occurrence of DRB1*03 and DQB1*0201 alleles was higher in SLE patients than in controls, but these alleles were rare in the PAPS+SLE group (13% in PAPS+SLE vs. 46% in the SLE only group; P = 0.044). HLA-DRB1*04 alleles were expressed frequently in both primary and secondary APS. DRB1*13, DQB1*06, and DQB1*0302 alleles were present more frequently in the PAPS+SLE patients than in the other groups, while the DQB1*0301 allele was rare. In this study we have shown that the SLE-associated DRB1*03/DQB1*02 alleles occurred frequently in our lupus patients as well as in SLE patients with secondary APS. In patients who started as PAPS and later progressed to SLE, the allele frequency was fundamentally different. Taken together, our results confirmed that the HLA-DRB1 and HLA-DQB1 profile of PAPS and SAPS is different. Therefore it is unlikely that these alleles are responsible for the partly similar phenotype of the two groups.
authors.affiliation: Third Department of Internal Medicine, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.
authors.forename: Aniko
authors.initials: A
authors.lastname: Kapitany
authors.forename: Tunde
authors.initials: T
authors.lastname: Tarr
authors.forename: Agnes
authors.initials: A
authors.lastname: Gyetvai
authors.forename: Peter
authors.initials: P
authors.lastname: Szodoray
authors.forename: Judit
authors.initials: J
authors.lastname: Tumpek
authors.forename: Gyula
authors.initials: G
authors.lastname: Poor
authors.forename: Gyula
authors.initials: G
authors.lastname: Szegedi
authors.forename: Sandor
authors.initials: S
authors.lastname: Sipka
authors.forename: Emese
authors.initials: E
authors.lastname: Kiss
mesh_terms: D000483:Alleles; D017153:Antibodies, Anticardiolipin / Q000097:blood; D016736:Antiphospholipid Syndrome / Q000150:complications / Q000235:genetics* / Q000276:immunology; D001323:Autoantibodies / Q000097:blood; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000235:genetics* / Q000276:immunology; D008297:Male; D012189:Retrospective Studies; D053482:beta 2-Glycoprotein I / Q000276:immunology
chemical_list: D017153:Antibodies, Anticardiolipin; D001323:Autoantibodies; D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D053482:beta 2-Glycoprotein I