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谷胱甘肽 S-转移酶 M1 和 T1 缺失等位基因频率在印度尼西亚人群中的分布与疾病风险评估的改善。

Glutathione S-transferase M1 and T1 null allele frequencies among Indonesian ethnics toward improved disease risk assessment.

机构信息

Genetic/Genomic Research Center, YARSI Research Institute, Universitas YARSI, Cempaka Putih, Jakarta Pusat, DKI Jakarta, Indonesia.

Genetic/Genomic Research Center, YARSI Research Institute, Universitas YARSI, Cempaka Putih, Jakarta Pusat, DKI Jakarta, Indonesia; Department of Pharmacology, Faculty of Medicine, Universitas YARSI, Cempaka Putih, Jakarta Pusat, DKI Jakarta, Indonesia; The Indonesian Pharmacogenomics Working Group, DKI Jakarta, Indonesia.

出版信息

Environ Toxicol Pharmacol. 2019 Jan;65:14-17. doi: 10.1016/j.etap.2018.10.008. Epub 2018 Nov 2.

Abstract

Genetic variations in the glutathione S-transferase genes GSTT1 and GSTM1 have been widely studied, and homozygous deletions or null genotypes have been reported in different populations. Previous studies suggest that individuals who are homozygous-null at the GSTM1 or GSTT1 locus may have an increased risk of environmentally related cancers and drug-induced hepatotoxicity. The aim of the present study was to determine the GSTM1 and GSTT1 polymorphisms in 154 healthy, unrelated individuals from the Javanese-Sundanese and Malay ethnic populations of Indonesia to provide a resource for improving the prognosis of possible susceptibilities in specific populations. The subjects were genotyped for the presence of GSTM1 and GSTT1 using the multiplex polymerase chain reaction technique. The GSTM1-null genotype was more frequent among Javanese-Sundanese ethnics (99%) than among the Indonesian Malay (67.2%). Similarly, Javanese-Sundanese ethnics showed a higher frequency of the GSTT1-null genotype (66.7%) than the Indonesian Malay (36.2%). Analysis of the combined distribution of the GSTM1 and GSTT1 genes revealed that 66.7% of the individuals from the Javanese-Sundanese population lack both the genes, whereas only 21.1% of the Indonesian Malay is GSTM1-null and GSTT1-null. This study contributes significant information on the variability of GSTT1 and GSTM1 gene polymorphisms worldwide, which can provide new knowledge about the relationship between ethnicity and the prevalence of certain diseases.

摘要

谷胱甘肽 S-转移酶基因 GSTT1 和 GSTM1 的遗传变异已经得到了广泛的研究,不同人群中已经报道了纯合缺失或无效基因型。先前的研究表明,GSTM1 或 GSTT1 基因座纯合缺失的个体可能患与环境相关的癌症和药物性肝毒性的风险增加。本研究旨在确定来自印度尼西亚爪哇-巽他人和马来族的 154 名健康、无关个体中的 GSTM1 和 GSTT1 多态性,为改善特定人群中可能的易感性预后提供资源。使用多重聚合酶链反应技术对 GSTT1 和 GSTM1 的存在进行基因分型。GSTM1 无效基因型在爪哇-巽他人(99%)中比在印度尼西亚马来人(67.2%)中更为常见。同样,爪哇-巽他人显示出 GSTT1 无效基因型(66.7%)的频率高于印度尼西亚马来人(36.2%)。对 GSTM1 和 GSTT1 基因的联合分布进行分析表明,66.7%的爪哇-巽他人个体缺乏这两个基因,而只有 21.1%的印度尼西亚马来人是 GSTM1 无效和 GSTT1 无效。这项研究为 GSTT1 和 GSTM1 基因多态性在全球范围内的变异性提供了重要信息,这可以为种族与某些疾病的流行之间的关系提供新的知识。

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