Polymorphisms in NAT2 (N-acetyltransferase 2) gene in patients with systemic lupus erythematosus

• Autor(a) principal: Santos,Elaine Cristina Lima dos
• Data de Publicação: 2016
• Outros Autores: Pinto,Amanda Chaves, Klumb,Evandro Mendes, Macedo,Jacyara Maria Brito
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista Brasileira de Reumatologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0482-50042016000600521
• topic: Systemic lupus erythematosus; N-acetyltransferase 2; Genetic polymorphism; Acetylator phenotype; Clinical phenotypes

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).