We'd appreciate your feedback. Send feedback
Subscribe to our newsletters and alerts
Variants in pharmacogenes can profoundly influence drug responses, but data on their occurrence in Middle Eastern populations, particularly Saudis, are scarce. This study investigated the inheritance patterns of selected pharmacogenetic markers in healthy individuals from Saudi Arabia. A total of 95 unrelated healthy Saudi participants provided DNA samples, which were genotyped using the Affymetrix Axiom Precision Medicine Diversity Array. Thirty-eight variants in 15 pharmacogenes were chosen for analysis based on their clinical significance and the lack of previous reports in the Saudi population. Among the 37 variants tested, 26 were completely absent. Eight markers in six genes—DPYD (rs1801268), CACNA1S (rs772226819), EGFR (rs121434568), RYR1 (rs193922816), CYP2B6 (rs3826711), and MT-RNR1 (rs267606617, rs267606618, rs267606619)—were not detected in any participant. Eleven variants spanning nine pharmacogenes were observed with variable prevalence. Notably, ATIC (rs4673993, MAF = 0.71) and SLC19A1 (rs1051266, MAF = 0.48), both relevant to methotrexate response, were highly frequent. CYP3A4 exhibited three alleles, including a common variant (rs2242480) and two rare alleles (*3 and *22). Other widely distributed variants included CHRNA5 (rs16969968, MAF = 0.35), IFNL3/IL28B (rs11881222, MAF = 0.30), and SLCO1B114 (MAF = 0.14), while CYP2A6*2, NAT2*14, and CFTR (rs115545701) were present at low frequencies (MAF = 0.021, 0.011, 0.005). Comparisons with global populations revealed significant differences for eight variants relative to Africans, five relative to East Asians, and two relative to Europeans. This study uncovers previously unreported pharmacogenetic profiles in Saudis, providing a foundation for tailoring therapies for diseases such as rheumatoid arthritis, cystic fibrosis, and hepatitis C. The findings can guide the development of Saudi-specific pharmacogenomic panels and inform precision medicine strategies.
