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

Elaine Cristina Lima Dos Santos; Amanda Chaves Pinto; Evandro Mendes Klumb; Jacyara Maria Brito Macedo

doi:10.1016/j.rbre.2016.09.015

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

Rev Bras Reumatol Engl Ed. 2016 Nov-Dec;56(6):521-529. doi: 10.1016/j.rbre.2016.09.015. Epub 2016 Oct 25.

[Article in English, Portuguese]

Authors

Elaine Cristina Lima Dos Santos¹, Amanda Chaves Pinto¹, Evandro Mendes Klumb², Jacyara Maria Brito Macedo³

Affiliations

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: [email protected].

PMID: 27914600
DOI: 10.1016/j.rbre.2016.09.015

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).

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Arylamine N-Acetyltransferase / genetics*
Genetic Predisposition to Disease / genetics
Genotype
Humans
Lupus Erythematosus, Systemic / genetics*
Polymorphism, Restriction Fragment Length / genetics*

Substances

Arylamine N-Acetyltransferase
NAT2 protein, human