Frequencies of CYP2C9 polymorphisms in a Syrian cohort

Area of Science:

• Pharmacogenetics
• Genetics
• Drug Metabolism

Background:

• Cytochrome P450 family 2 subfamily C member 9 (CYP2C9) exhibits significant genetic variability impacting drug metabolism.
• Understanding CYP2C9 variant frequencies is crucial for personalized medicine and pharmacogenetics.
• Limited data exists on CYP2C9 genetic diversity in Middle Eastern populations.

Purpose of the Study:

• To determine the frequencies of CYP2C9 variants in the Syrian population.
• To assess the prevalence of specific CYP2C9 alleles, including *2 and *3.
• To contribute data on CYP2C9 genetic variability in the Middle East.

Main Methods:

• A cross-sectional study involving 138 unrelated Syrian individuals from Damascus and Homs.
• Genomic DNA extraction from peripheral blood.
• PCR amplification and sequencing to detect 24 exonic and 2 intronic CYP2C9 variants.

Main Results:

• The CYP2C9 *2 and *3 alleles were detected at frequencies of 14.8% and 8.3%, respectively.
• 43.5% of subjects carried at least one dysfunctional CYP2C9 variant.
• High linkage disequilibrium was observed between intronic rs933119 and the *2 allele (rs1799853).

Conclusions:

• Syrian individuals exhibit a high prevalence of CYP2C9 *2 and *3 alleles, suggesting a significant proportion of intermediate and poor metabolizers.
• Rare variants *41 and *46 were identified, warranting further investigation.
• These findings support the implementation of CYP2C9 pharmacogenetics for personalized pharmacotherapy in Syrians.