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ResumoObjetivoInvestigar potenciais associações de quatro substituições do gene NAT2 (N‐acetiltransferase 2) e do fenótipo acetilador de NAT2 com o lúpus eritematoso sistêmico (LES) e os fenótipos clínicos.MétodosA análise molecular das substituições 481C>T, 590G>A, 857G>A e 191G>A do gene NAT2 foi feita com a técnica de PCR‐RFLP, usando DNA extraído de amostras de sangue periférico obtidas de pacientes com LES (n=91) e controles (n=97).Resultados e conclusõesO genótipo 857GA foi mais prevalente entre pacientes com LES não brancas (OR=4,01, IC 95%=1,18‐13,59). O alelo 481T apresentou associação positiva com as alterações hematológicas que envolvem mecanismos autoimunes, especificamente anemia hemolítica autoimune ou trombocitopenia autoimune (OR=1,97; IC 95%=1,01‐3,81).AbstractObjectiveTo investigate potential associations of four substitutions in NAT2 gene and of acetylator phenotype of NAT2 with systemic lupus erythematosus (SLE) and clinical phenotypes.MethodsMolecular analysis of 481C>T, 590G>A, 857G>A, and 191G>A substitutions in the NAT2 gene was performed by PCR‐RFLP technique, using DNA extracted from peripheral blood samples obtained from patients with SLE (n=91) and controls (n=97).Results and conclusionsThe 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)

Polimorfismos no gene NAT2 (N‐acetiltransferase 2) em pacientes com lúpus eritematoso sistêmico