Implications of genetic variation of common Drug Metabolizing Enzymes and ABC Transporters among the Pakistani Population

Nasir Ali Afsar, Henrike Bruckmueller, Anneke Nina Werk, Muhammad Kashif Nisar, H. R. Ahmad, Ingolf Cascorbi

Research output: Contribution to journalArticlepeer-review

17 Citations (Scopus)

Abstract

Genetic polymorphism of drug metabolizing enzymes and transporters may influence drug response. The frequency varies substantially between ethnicities thus having implications on appropriate selection and dosage of various drugs in different populations. The distribution of genetic polymorphisms in healthy Pakistanis has so far not been described. In this study, 155 healthy adults (98 females) were included from all districts of Karachi. DNA was extracted from saliva and genotyped for relevant SNVs in CYP1A1, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A4 and CYP3A5 as well as ALDH3A1, GSTA1, ABCB1 and ABCC2. About 64% of the participants were born to parents who were unrelated to each other. There was generally a higher prevalence (p < 0.05) of variant alleles of CYP450 1A2, 2B6, 2C19, 3A5, ALDH3A1, GSTM1 as well as ABCB1 and ABCC2 in this study cohort than in other ethnicities reported in the HapMap database. In contrast, the prevalence of variant alleles was lower in GSTA1. Therefore, in the Pakistani population sample from Karachi a significantly different prevalence of variant drug metabolizing enzymes and ABC transporters was observed as compared to other ethnicities, which could have putative clinical consequences on drug efficacy and safety.

Original languageEnglish
Article number7323
JournalScientific Reports
Volume9
Issue number1
DOIs
Publication statusPublished - 1 Dec 2019

Fingerprint

Dive into the research topics of 'Implications of genetic variation of common Drug Metabolizing Enzymes and ABC Transporters among the Pakistani Population'. Together they form a unique fingerprint.

Cite this