تواتر التعددات الشكلية مفردة النوكليوتيد SNPs لجين إنزيم السيتوكروم أكسيداز CYP2C9 في جمهرة من السوريين

الملخص EN

Cytochrome oxidase CYP2C9 is responsible for the metabolic clearance of up to 16%-20% of all drugs.

The gene coding for this enzyme is highly polymorphic leading to functional variants and individual and ethnic disparities with regards to its metabolic activity.

This cross-sectional ftudy aimed to identify the frequency of the single nucleotide polymorphisms (SNPs) CYP2C9*1, *2, *3, *41, *46 in a representative cohort of Syrians.

Genomic DNA was extracted from peripheral blood of volunteers from Damascus and Homs.

Following optimization of PCR conditions, specific amplification products were purified and sequenced according to Sanger method.

Snap-gene®, Geneious® software tools were used to confirm amplicon sequences and allele genotyp-ing.

Statiftical analysis was performed using SPSS 25.

A total of 138 individuals were included, and ratio of female to male was 60:87.

The genotype frequencies for 1/1, 1/2, 2/2, 1/3, 2/3, 3/3, 1/41, 2/41, 3/41, 1/46, 46/2, 46/3 were 56.5, 23.9, 0.7, 12.3, 4.3, 0, 0.7, 0, 0.7, 0.7, 0, and 0%, respectively.

Therefore, the allele frequencies of *2 and *3 were 14.8% and 8.5% respectively, and 43.5% of the ftudy individuals have at leaft one of the SNPs: *2, *3,*41 and *46.

These results contribute to the identification of major CYP2C9 SNPs in a sample of Syrian individuals, and suggeft conducting CYP2C9 genotyping and assessment of its metabolic function prior to initiating pharmacotherapy with narrow therapeutic window drug subftrates.