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

Abstract

<b>Purpose: </b>This study investigates the association between single nucleotide polymorphism in RPL5 and the risk of deep vein thrombosis (DVT) in the Saudi population.<br /> <b>Materials and methods: </b>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.<br /> <b>Results: </b>Findings showed a<b> </b>significant correlation between DVT patients and controls<b> </b>for<b> </b>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.<br /> <b>Conclusions:</b> Our findings indicate that variants (rs138979590, rs558220259, and rs576892621) significantly contribute to DVT risk in Saudi patients.