Elaine Cristina Lima Dos Santos1, Amanda Chaves Pinto1, Evandro Mendes Klumb2, Jacyara Maria Brito Macedo3. 1. Universidade do Estado do Rio de Janeiro (UERJ), Departamento de Bioquímica, Rio de Janeiro, RJ, Brazil. 2. Universidade do Estado do Rio de Janeiro (UERJ), Disciplina de Reumatologia, Rio de Janeiro, RJ, Brazil. 3. Universidade do Estado do Rio de Janeiro (UERJ), Departamento de Bioquímica, Rio de Janeiro, RJ, Brazil. Electronic address: jacyara@uerj.br.
Abstract
OBJECTIVE: To investigate potential associations of four substitutions in NAT2 gene and of acetylator phenotype of NAT2 with systemic lupus erythematosus (SLE) and clinical phenotypes. METHODS: Molecular analysis of 481C>T, 590G>A, 857G>A, and 191G>A substitutions in the NAT2 gene was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique, from DNA extracted from peripheral blood samples obtained from patients with SLE (n=91) and controls (n=97). RESULTS AND CONCLUSIONS: The 857GA genotype was more prevalent among nonwhite SLE patients (OR=4.01, 95% CI=1.18-13.59). The 481T allele showed a positive association with hematological disorders that involve autoimmune mechanisms, specifically autoimmune hemolytic anemia or autoimmune thrombocytopenia (OR=1.97; 95% CI=1.01-3.81). Copyright Â
OBJECTIVE: To investigate potential associations of four substitutions in NAT2 gene and of acetylator phenotype of NAT2 with systemic lupus erythematosus (SLE) and clinical phenotypes. METHODS: Molecular analysis of 481C>T, 590G>A, 857G>A, and 191G>A substitutions in the NAT2 gene was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique, from DNA extracted from peripheral blood samples obtained from patients with SLE (n=91) and controls (n=97). RESULTS AND CONCLUSIONS: The 857GA genotype was more prevalent among nonwhite SLEpatients (OR=4.01, 95% CI=1.18-13.59). The 481T allele showed a positive association with hematological disorders that involve autoimmune mechanisms, specifically autoimmune hemolytic anemia or autoimmune thrombocytopenia (OR=1.97; 95% CI=1.01-3.81). Copyright Â