Yuliwulandari Rika, Susilowati Retno Wilujeng, Razari Intan, Viyati Kencono, Umniyati Helwiah, Prayuni Kinasih
Department of Pharmacology, Faculty of Medicine, YARSI University, DKI Jakarta, Indonesia.
Genetic/Genomic Research Center, Yarsi Research Institute, YARSI University, DKI Jakarta, Indonesia.
Ann Hum Genet. 2019 Nov;83(6):465-471. doi: 10.1111/ahg.12341. Epub 2019 Jul 22.
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.
We found six haplotypes consisting of six single-nucleotide polymorphisms and 12 NAT2 genotype variations. NAT26A haplotype (42%) showed the highest frequency, followed by NAT24 (33%), NAT27B (15%), NAT25B (5%), NAT212A (3%), and NAT213 (2%). In terms of phenotypes, the Buginese population comprised 18% rapid acetylators, 40% intermediate acetylators, and 42% slow acetylators.
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 NAT26A/*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.
N - 乙酰基转移酶2(NAT2)是一种关键酶,参与多种外源性物质中存在的芳香胺和杂环芳香胺的Ⅱ相代谢。本研究的目的是调查印度尼西亚布吉斯族中的NAT2基因多态性,以确定该人群中NAT2等位基因的频率。
我们发现了由六个单核苷酸多态性组成的六种单倍型和12种NAT2基因型变异。NAT26A单倍型(42%)频率最高,其次是NAT24(33%)、NAT27B(15%)、NAT25B(5%)、NAT212A(3%)和NAT213(2%)。在表型方面,布吉斯人群中快速乙酰化者占18%,中间乙酰化者占40%,慢速乙酰化者占42%。
我们证实了布吉斯人群中慢速乙酰化者表型的高频率。NAT2*6A/6A基因型是最常见的慢速乙酰化者基因型,其次是NAT26A/*7B。布吉斯人的NAT2等位基因模式与东南亚人群相似,但与东北亚人群不同。然而,布吉斯人群中慢速乙酰化者的频率高于东北亚人群,低于白种人和一些美国人群。