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约旦切尔克斯人群中药物基因组学 VIP 变异的遗传多态性。

Genetic Polymorphisms of Pharmacogenomic VIP Variants in the Circassian Subpopulation from Jordan.

机构信息

Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.

Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, Jordan.

出版信息

Curr Drug Metab. 2019;20(8):674-681. doi: 10.2174/1389200220666190729124000.

DOI:10.2174/1389200220666190729124000
PMID:31362667
Abstract

BACKGROUND

It has been suggested that genetic variation within candidate pharmacogenes contributes to the differences in drug safety and efficacy as well as risk of adverse drug reactions among different ethnic groups. Illustrating the polymorphic distribution of Very Important Pharmacogenes (VIPs) in various ethnic groups will contribute to the development of personalized medicine for those populations.

OBJECTIVE

The present study aimed to identify the polymorphic distribution of VIPs in the Circassian subpopulation of Jordan and compare their allele frequencies with those of other populations.

METHODS

A total of 130 healthy and unrelated Circassian adults from Jordan were randomly recruited and genotyped for eleven VIP variants within the thiopurine S-methyltransferase (TPMT), ATP-binding cassette, sub-family B, member 1 (ABCB1), and vitamin D receptor (VDR) genes via Sequenom's MassARRAY® genotyping platform (iPLEX GOLD).

RESULTS

Our data on the allelic frequencies of the investigated VIP variants were compared to those of 18 other populations, comprising 11 HapMap populations, 6 Exome Aggregation Consortium populations, and the Chechen- Jordanian population from Jordan. Circassian-Jordanians were found to most resemble the African, Chechen- Jordanian, European (Finnish), European (non-Finnish), and South-Asian populations.

CONCLUSION

Circassians from Jordan significantly differ from other populations in terms of the allelic frequencies of selected VIP variants. The present findings constitute the first set of pharmacogenetic data for Circassian population from Jordan, providing a basis for safe drug administration that may be useful in diagnosing and treating diseases in this ethnic group.

摘要

背景

候选药物基因内的遗传变异被认为导致了不同种族间药物安全性和疗效以及药物不良反应风险的差异。阐明不同种族中非常重要的药物基因(VIP)的多态性分布将有助于为这些人群开发个体化药物。

目的

本研究旨在确定约旦切尔克斯人群中 VIP 的多态性分布,并将其等位基因频率与其他人群进行比较。

方法

从约旦随机招募了 130 名健康且无关的切尔克斯成年人,通过Sequenom 的 MassARRAY®基因分型平台(iPLEX GOLD)对 11 个 VIP 变体(硫嘌呤 S-甲基转移酶(TPMT)、ATP 结合盒,亚家族 B,成员 1(ABCB1)和维生素 D 受体(VDR)基因)进行基因分型。

结果

我们对所研究 VIP 变体的等位基因频率的数据与来自 18 个其他群体的数据进行了比较,其中包括 11 个 HapMap 群体、6 个 Exome Aggregation Consortium 群体以及来自约旦的切尔克斯-约旦人群。约旦切尔克斯人被发现与非洲、切尔克斯-约旦、欧洲(芬兰人)、欧洲(非芬兰人)和南亚人群最为相似。

结论

约旦切尔克斯人在选定 VIP 变体的等位基因频率方面与其他人群存在显著差异。本研究结果构成了约旦切尔克斯人群的第一批药物遗传学数据,为在该人群中诊断和治疗疾病提供了安全药物管理的基础。

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