Izvorni znanstveni članak
The role of CD247 polymorphisms in Bulgarian patients with systemic lupus erythematosus
Maria Hristova
; Department of Clinical Laboratory and Clinical Immunology and Department of Nephrology, Medical University of Sofia
Zornitsa Kamenarska
; Molecular Medicine Center, Medical University-Sofia and Department of Medical Chemistry and Biochemistry, Medical University of Sofia
Gyulnas Dzhebir
; Molecular Medicine Center, Medical University-Sofia and Department of Medical Chemistry and Biochemistry, Medical University of Sofia
Radka Kaneva
; Molecular Medicine Center, Medical University-Sofia and Department of Medical Chemistry and Biochemistry, Medical University of Sofia
Anton Vinkov
; Hôpitaux Drome Nord, 607 avenue Geneviève de Gaulle-Anthonioz, Romans-sur-Isère
Vanio Mitev
; Department of Medical Chemistry and Biochemistry, Medical University of Sofia
Lyubomir A. Dourmishev
; Department of Dermatology, Medical University of Sofa
Sažetak
Decreased expression of the TCR ζ-chain has been reportedin several autoimmune and inflammatory diseases. Recent evidence suggeststhat this deficiency may be due to polymorphisms in the CD247gene. A total 52 patients with systemic lupus erythematosus (SLE) and95 healthy controls of Bulgarian ethnicity were genotyped for 837C>G,rs1052230, 844A>T, and rs1052231 using a TaqMan genotyping assay.None of the two polymorphisms appeared associated with the diseases.On the other hand, we have found that the -837GG genotype and the Gallele were associated with hematological disease. The -844AA genotypeand the A allele appeared associated with the hematological disease aswell. The -843AA genotype and the A allele were found to be associatedwith antinuclear antibody (ANA) tests and immunological disease. Anassociation was found between the -837G allele and arthritis. The AGhaplotype was found to be associated with hematological disease, ANA,and immunological disease. Our preliminary data confirm the previousfindings that the CD247 polymorphisms are mainly associated with theclinical outcome of the disease and less with susceptibility.
Ključne riječi
Systemic lupus erythematosus; CD247 polymorphisms
Hrčak ID:
192894
URI
Datum izdavanja:
20.1.2018.
Posjeta: 681 *