Analysis of the functional NFKB1 promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus
| Autor: | A. García, Miguel A. López-Nevot, Elena Sánchez, Laura Paco, Juan Jiménez-Alonso, Javier Martín, Gisela Orozco, Maria Dolores Collado |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Immunology Population Biochemistry Arthritis Rheumatoid Gene Frequency Genotype Genetics Humans Lupus Erythematosus Systemic Immunology and Allergy Medicine NFKB1 Gene Allele Promoter Regions Genetic skin and connective tissue diseases education Allele frequency education.field_of_study Polymorphism Genetic business.industry Case-control study NF-kappa B p50 Subunit General Medicine Middle Aged medicine.disease Case-Control Studies Rheumatoid arthritis Microsatellite Female business Transcription Factors |
| Zdroj: | Tissue Antigens. 65:183-186 |
| ISSN: | 1399-0039 0001-2815 |
| Popis: | Nuclear factor (NF)-kappaB plays an important role in inflammatory diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). A functional insertion/deletion polymorphism (-94ins/delATTG) has been identified in the promoter of the NFKB1 gene. In addition, a polymorphic dinucleotide repeat (CA) has been identified in proximity to the coding region of the human NFKB1 gene. The aim of the present study was to investigate the influence of both the -94ins/delATTG and the (CA) microsatellite NFKB1 polymorphisms in the susceptibility/severity of RA and SLE. We analyzed the distribution of -94ins/delATTG and the multiallelic (CA)(n) repeat in 272 RA patients, 181 SLE patients, and 264 healthy controls from Southern Spain, in both cases using a polymerase chain reaction-fluorescent method. No statistically significant difference in the distribution of the -94delATTG NFKB1 genotypes and alleles between RA patients, SLE patients, and control subjects was observed. Similarly, we found no statistically significant differences in the (CA)(n) microsatellite allele frequency between controls and RA patients or SLE patients. In addition, no association was found between the above mentioned NFKB1 polymorphisms with any of the demographic and clinical parameters tested either in RA or in SLE patients. From these results, it seems that the -94ins/delATTG and the (CA)(n) repeat of NFKB1 gene may not play a relevant role in RA and/or SLE in our population. |
| Databáze: | OpenAIRE |
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