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

Publication date: Available online 25 October 2016 Source:Revista Brasileira de Reumatologia (English Edition) Author(s): Elaine Cristina Lima dos Santos, Amanda Chaves Pinto, Evandro Mendes Klumb, Jacyara Maria Brito Macedo 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).

Source: Revista Brasileira de Reumatologia - October 24, 2016 Category: Rheumatology Source Type: research