N-acetyltransferase 2 polymorphism and acetylation profiles in Buginese ethnics of Indonesia

Ann Hum Genet. 2019 Nov;83(6):465-471. doi: 10.1111/ahg.12341. Epub 2019 Jul 22.

Abstract

Background: N-acetyltransferase 2 (NAT2) is a key enzyme involved in the phase II metabolism of aromatic amines and heterocyclic aromatic amines present in a wide range of xenobiotics. The aim of this study was to investigate the NAT2 polymorphism in the Buginese ethnic group of Indonesia to determine the frequency of NAT2 alleles in this population.

Results: We found six haplotypes consisting of six single-nucleotide polymorphisms and 12 NAT2 genotype variations. NAT2*6A haplotype (42%) showed the highest frequency, followed by NAT2*4 (33%), NAT2*7B (15%), NAT2*5B (5%), NAT2*12A (3%), and NAT2*13 (2%). In terms of phenotypes, the Buginese population comprised 18% rapid acetylators, 40% intermediate acetylators, and 42% slow acetylators.

Conclusion: We confirmed the high-frequency slow acetylator phenotype in the Buginese population. The NAT2*6A/*6A genotype was the most frequent slow acetylator genotype, followed by NAT2*6A/*7B. The pattern of NAT2 alleles of Buginese is similar to Southeast Asian populations but not Northeast Asian populations. However, the slow acetylator frequencies in the Buginese population were higher than those in Northeast Asian populations and lower than those in Caucasians and some American populations.

Keywords: Buginese; Indonesia; NAT2; pharmacogenetics; polymorphism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylation
  • Alleles
  • Arylamine N-Acetyltransferase / genetics*
  • Arylamine N-Acetyltransferase / metabolism*
  • Ethnicity / genetics*
  • Gene Frequency
  • Genotype
  • Haplotypes
  • Humans
  • Indonesia
  • Male
  • Phenotype
  • Polymorphism, Single Nucleotide*

Substances

  • Arylamine N-Acetyltransferase
  • NAT2 protein, human