Genetic polymorphism of the drug-metabolizing enzyme Cytochrome P4502E1 (CYP2E1) in a healthy Saudi population.

Objectives: Cytochrome P450 2E1 () is one of the major enzymes involved in the metabolism and detoxification of various drugs and xenobiotics. Polymorphisms in the gene exhibit high inter-individual variations associated with alterations in gene expression and enzyme function. This study aimed to determine the genotype distributions and allele frequencies of , and polymorphisms among Saudis in western Saudi Arabia.

Methods: In total, 140 healthy Saudis attending King Abdulaziz University Hospital between February and April 2021 were included in the study. gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism analysis.

Results: The genotype frequencies of A2A2, A2A1, and A1A1 were 54.29%, 40%, and 8%, respectively. The frequencies of c1c1 and c1c2 genotypes were approximately 99.93% and 0.07%, respectively. The frequencies of the DD, DC, and CC genotypes were 91.43%, 7.85%, and 0.72%, respectively. The genotype distributions for these polymorphisms were consistent with the expected distribution based on Hardy-Weinberg equilibrium. The allele frequencies were 74.29% A2 and 25.71% A1 for , 99.64% c1 and 0.36% c2 for , and 95.36% D and 4.65% C for .

Conclusion: The genotype distribution of polymorphism was higher in the western Saudi population, whereas the and polymorphisms were lower than the global average. Knowledge of the prevalence of polymorphisms among our population will provide a better understanding of whether individual patients might benefit from their medication or whether they might develop adverse effects.