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Variations in the frequencies of polymorphisms in the CYP2C9 gene in six major ethnicities of Pakistan.

Authors :
Ahmed, Sagheer
Altaf, Nadeem
Ejaz, Mahnoor
Altaf, Aisha
Amin, Aneela
Janjua, Kholood
Khan, Arif Ullah
Imran, Imran
Khan, Saeed
Source :
Scientific Reports; 11/9/2020, Vol. 10 Issue 1, pN.PAG-N.PAG, 1p
Publication Year :
2020

Abstract

Genetic variation in cytochrome P450 (CYP) 2C9 is known to cause significant inter-individual differences in drug response and adverse effects. The frequencies of CYP2C9*2 and CYP2C9*3, both of which are responsible for the low activity of the enzyme, are not known in the Pakistani population. Therefore, we screened various ethnic groups residing in Pakistan for these polymorphisms. A total of 467 healthy human volunteers were recruited from six major ethnicities of Pakistan after written informed consent. Our results indicate that about 20% of the Pakistani population has a genotype containing at least one low activity allele. Ethnic Punjabi and Pathan populations had the highest frequencies of wild type genotypes while Urdu, Seraiki, and Sindhi populations showed higher rates of both low activity genotypes. The Baloch population showed the highest rates of low activity genotypes with less than 50% of the samples showing wild type genotypes, suggesting that more than half of the Baloch population possesses low activity genotypes. The frequencies found in various ethnic groups in Pakistan were comparable with ethnicities in the South Asian region except for the Baloch population. These results suggest that pharmacogenetics screening for low activity genotypes may be a helpful tool for clinicians while prescribing medications metabolized by CYP2C9. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20452322
Volume :
10
Issue :
1
Database :
Complementary Index
Journal :
Scientific Reports
Publication Type :
Academic Journal
Accession number :
146912848
Full Text :
https://doi.org/10.1038/s41598-020-76366-x