Variations in the frequencies of polymorphisms in the CYP2C9 gene in six major ethnicities of Pakistan
| Autor: | Aneela Amin, Aisha Altaf, Kholood Janjua, Saeed Khan, Arif Ullah Khan, Sagheer Ahmed, Nadeem Altaf, Imran Imran, Mahnoor Ejaz |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Molecular biology Population lcsh:Medicine Biology Article Asian People Gene Frequency Polymorphism (computer science) Genetic variation Genotype Genetics Humans Pakistan Allele lcsh:Science education Allele frequency CYP2C9 Alleles Cytochrome P-450 CYP2C9 education.field_of_study Multidisciplinary Polymorphism Genetic lcsh:R lcsh:Q Pharmacogenetics Demography |
| Zdroj: | Scientific Reports Scientific Reports, Vol 10, Iss 1, Pp 1-8 (2020) |
| ISSN: | 2045-2322 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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