Association between single nucleotide polymorphisms in the ribosomal protein L5 gene and the risk of deep vein thrombosis in Saudi population

Purpose: This study investigates the association between single nucleotide polymorphism in RPL5 and the risk of deep vein thrombosis (DVT) in the Saudi population. Materials and methods: The case-control study included 98 DVT patients and 97 age-and sex-matched healthy controls. Peripheral blood samples were collected for genetic analysis after ethical clearance. DNA extraction was performed using a standard protocol, and RPL5 gene primers were designed for PCR amplification. Sanger sequencing was performed using the ABI 3730×L system. Results: Findings showed a significant correlation between DVT patients and controls for two alleles: RPL5 rs558220259 G (p =0.000); rs576892621 G (p =0.031). Genotype analysis showed significant associations for rs138979590 (C/T) (p =0.0001), rs558220259 (G/A) (p =0.0087), and rs576892621 (G/A) (p =0.0272) with DVT. Conclusions: Our findings indicate that variants (rs138979590, rs558220259, and rs576892621) significantly contribute to DVT risk in Saudi patients.