title: Tumor necrosis factor alpha promoter polymorphism -308 G/A in Brazilian patients with systemic lupus erythematosus.
abstract: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the production of antibodies to components of the cell nucleus in association with a diverse array of clinical manifestations. Polymorphisms in cytokines genes may play an important role in the development and clinical manifestation. Due to this, there is a great interest in the identification of biomarkers that which could quantify the susceptibility and disease activity. A case-control study of 98 lupus cases and 76 lupus-free adults controls, was performed to analyze whether or not the polymorphism of the TNF-α gene promoter at positions -308 G/A would alter the risk for SLE and clinical manifestations. Genotyping was carried out by polymerase chain reaction, PCR products were digested by NcoI restriction enzyme and fractionated after on 2% Agarose gel and visualized posteriorly staining by ethidium bromide. There were significant differences in the distribution of the TNF-α gene polymorphism between the SLE and control groups. Individual carriers of the variant allele A had a 3.29 (95% CI: 1.7738-6.1325)-fold increased risk for SLE. Moreover, association was observed between SLE patients and serositis (P=0.0228). This study presents a preliminary evidence of association between TNF-α polymorphism and SLE susceptibility in the Northeast population from Brazil.
authors.affiliation: Institute of Biological Science, Universidade de Pernambuco (ICB/UPE), Brazil.
authors.forename: Hildson Dornelas
authors.initials: HD
authors.lastname: Angelo
authors.forename: Helker Albuquerque
authors.initials: HA
authors.lastname: da Silva
authors.forename: Nadja Maria Jorge
authors.initials: NM
authors.lastname: Asano
authors.forename: Maria Tereza Cartaxo
authors.initials: MT
authors.lastname: Muniz
authors.forename: Maria
authors.initials: M
authors.lastname: de Mascena Diniz Maia
authors.forename: Paulo Roberto Eleutério
authors.initials: PR
authors.lastname: de Souza
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001938:Brazil; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*; D055815:Young Adult
chemical_list: D014409:Tumor Necrosis Factor-alpha