title: IL-1RN VNTR Polymorphism in Adult Dermatomyositis and Systemic Lupus Erythematosus.
abstract: Polymorphisms in the cytokine genes and their natural antagonists are thought to influence the predisposition to dermatomyositis (DM) and systemic lupus erythematosus (SLE). A variable number tandem repeat (VNTR) polymorphism of 86 bp in intron 2 of the interleukin-1 receptor antagonist (IL-1RN) gene leads to the existence of five different alleles which cause differences in the production of both IL-1RA (interleukin-1 receptor antagonist) and IL-1β. The aim of this case-control study was to investigate the association between the IL-1RN VNTR polymorphism and the susceptibility to DM and SLE in Bulgarian patients. Altogether 91 patients, 55 with SLE and 36 with DM, as well as 112 unrelated healthy controls, were included in this study. Only three alleles were identified in both patients and controls ((1) four repeats, (2) two repeats, and (3) five repeats). The IL-1RN*2 allele (P = 0.02, OR 2.5, and 95% CI 1.2-5.4) and the 1/2+2/2 genotypes were found prevalent among the SLE patients (P = 0.05, OR 2.6, and 95% CI 1-6.3). No association was found between this polymorphism and the ACR criteria for SLE as well as with the susceptibility to DM. Our results indicate that the IL-1RN VNTR polymorphism might play a role in the susceptibility of SLE but not DM.
authors.affiliation: Molecular Medicine Center and Department of Medical Chemistry and Biochemistry, Medical University-Sofia, 2 Zdrave Street, 1431 Sofia, Bulgaria.
authors.forename: Zornitsa
authors.identifier: 0000-0003-0401-4189
authors.initials: Z
authors.lastname: Kamenarska
authors.affiliation: Molecular Medicine Center and Department of Medical Chemistry and Biochemistry, Medical University-Sofia, 2 Zdrave Street, 1431 Sofia, Bulgaria.
authors.forename: Gyulnas
authors.identifier: 0000-0002-3209-4545
authors.initials: G
authors.lastname: Dzhebir
authors.affiliation: Department of Clinical Laboratory and Clinical Immunology and Department of Nephrology, Medical University-Sofia, 1 Georgi Sofijski Street, 1431 Sofia, Bulgaria.
authors.forename: Maria
authors.identifier: 0000-0002-4526-147X
authors.initials: M
authors.lastname: Hristova
authors.affiliation: National Genetic Laboratory, Maichin Dom Hospital, 2 Zdrave Street, 1431 Sofia, Bulgaria.
authors.forename: Alexey
authors.initials: A
authors.lastname: Savov
authors.affiliation: 28 Diagnostic and Consultative Center-Sofia, 1 Iliya Beshkov Street, 1592 Sofia, Bulgaria.
authors.forename: Anton
authors.identifier: 0000-0002-8923-3892
authors.initials: A
authors.lastname: Vinkov
authors.affiliation: Molecular Medicine Center and Department of Medical Chemistry and Biochemistry, Medical University-Sofia, 2 Zdrave Street, 1431 Sofia, Bulgaria.
authors.forename: Radka
authors.initials: R
authors.lastname: Kaneva
authors.affiliation: Molecular Medicine Center and Department of Medical Chemistry and Biochemistry, Medical University-Sofia, 2 Zdrave Street, 1431 Sofia, Bulgaria.
authors.forename: Vanio
authors.initials: V
authors.lastname: Mitev
authors.affiliation: Department of Dermatology and Venereology, Medical University-Sofia, 1 Georgi Sofijski Street, 1431 Sofia, Bulgaria.
authors.forename: Lyubomir
authors.identifier: 0000-0001-8458-1241
authors.initials: L
authors.lastname: Dourmishev