Association between single nucleotide polymorphisms in the ribosomal protein L5 gene and the risk of deep vein thrombosis in Saudi population
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Fathelrahman Hassan 1 , Afnan Alsultan 2 , Waleed Albuali 3 , Dalal K. Bubshait 3 , Elfadil Abass 2 , Mudathir Elbasheer 1 , Saeed Sattar Shaikh 2 , Abdulmohsen Alkhanbashi 2 , Faisal M. Alzahrani 2 *
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1 College of Medical Laboratory Sciences, Sudan University of Science and Technology, Khartoum, SUDAN2 Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Imam Abdulrahman Bin Faisal University, Dammam, SAUDI ARABIA3 Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, SAUDI ARABIA* Corresponding Author

Abstract

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.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Original Article

ELECTRON J GEN MED, Volume 22, Issue 6, December 2025, Article No: em706

https://doi.org/10.29333/ejgm/17525

Publication date: 10 Dec 2025

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