title: Polymorphisms in NAT2 (N-acetyltransferase 2) gene in patients with systemic lupus erythematosus.
abstract: To investigate potential associations of four substitutions in NAT2 gene and of acetylator phenotype of NAT2 with systemic lupus erythematosus (SLE) and clinical phenotypes.
  
  
  
  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).
  
  
  
  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).
authors.affiliation: Universidade do Estado do Rio de Janeiro (UERJ), Departamento de Bioquímica, Rio de Janeiro, RJ, Brazil.
authors.forename: Elaine Cristina Lima Dos
authors.initials: EC
authors.lastname: Santos
authors.affiliation: Universidade do Estado do Rio de Janeiro (UERJ), Departamento de Bioquímica, Rio de Janeiro, RJ, Brazil.
authors.forename: Amanda Chaves
authors.initials: AC
authors.lastname: Pinto
authors.affiliation: Universidade do Estado do Rio de Janeiro (UERJ), Disciplina de Reumatologia, Rio de Janeiro, RJ, Brazil.
authors.forename: Evandro Mendes
authors.initials: EM
authors.lastname: Klumb
authors.affiliation: Universidade do Estado do Rio de Janeiro (UERJ), Departamento de Bioquímica, Rio de Janeiro, RJ, Brazil. Electronic address: jacyara@uerj.br.
authors.forename: Jacyara Maria Brito
authors.initials: JM
authors.lastname: Macedo
mesh_terms: D001191:Arylamine N-Acetyltransferase / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics*
chemical_list: D001191:Arylamine N-Acetyltransferase; C478900:NAT2 protein, human
keywords: Acetylator phenotype; Clinical phenotypes; Fenótipo acetilador; Fenótipos clínicos; Genetic polymorphism; Lúpus eritematoso sistêmico; N-acetiltransferase 2; N-acetyltransferase 2; Polimorfismo genético; Systemic lupus erythematosus