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Analysis of Comprehensive Pharmacogenomic Profiling of VIP Variants Among the Genetically Isolated Chechen Subpopulation from Jordan

Authors AL-Eitan LN, Rababa'h DM, Hakooz NM, Alghamdi MA, Dajani RB

Received 20 March 2020

Accepted for publication 29 June 2020

Published 14 July 2020 Volume 2020:13 Pages 199—215


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3

Editor who approved publication: Dr Martin H Bluth

Laith N AL-Eitan,1,2 Doaa M Rababa’h,1 Nancy M Hakooz,3 Mansour A Alghamdi,4,5 Rana B Dajani6– 8

1Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid, Jordan; 2Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan; 3Department of Biopharmaceutics and Clinical Pharmacy, School of Pharmacy, University of Jordan, Amman, Jordan; 4Department of Anatomy, College of Medicine, King Khalid University, Abha, Saudi Arabia; 5Genomics and Personalized Medicine Unit, College of Medicine, King Khalid University, Abha, Saudi Arabia; 6Department of Biology and Biotechnology, Hashemite University, Zarqa, Jordan; 7Radcliffe Institute for Advanced Studies, Harvard University, Cambridge, MA, USA; 8Jepson School of Leadership, Richmond University, Richmond, VA, USA

Correspondence: Laith N AL-Eitan
Department of Applied Biological Sciences, Jordan University of Science and Technology, PO Box 3030, Irbid 22110, Jordan
Tel +962 -2 -7201000
Fax +962-2-7201071

Background: Profiling rare variants in isolated populations can significantly clarify and understand the development of a clinically relevant process. Therefore, leading to a better identifying novel targeted treatment.
Objective: This study aimed to determine the allele frequencies of 56 single nucleotide polymorphisms (SNPs) within several important pharmacogenes.
Methods: This study consisted of 166 unrelated subjects from a genetically isolated group (Chechen) who were living in Jordan. In this study, the distribution of the variants among Chechen was compared to other ethnic groups available at two databases (Genome 1000 and (ExAC)). The frequency of genotypes and alleles was calculated and tested using the chi-square test and the Hardy–Weinberg equilibrium equation (HWE).
Results: Our results revealed that the distribution of allele frequencies within different pharmacogenes among Chechen showed different similarities with other populations. The CEU and TSI showed the highest resemblance with the Chechen population (75% similarity), in contrast to LWK which had the lowest similarity (30%).
Conclusion: This study sheds light on clinically relevant SNPs to enhance medical research and apply pharmacogenomics in clinical settings.

Keywords: pharmacogenomics, VIP polymorphism, Phase I enzymes, Phase II enzymes, metabolizing

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