The factor V H1327R (rs1800595) polymorphism is associated with venous thromboembolic events: a case-control study in southern Iran.

Abstract

Venous thromboembolism (VTE) is a complex condition influenced by genetic and acquired factors. While genetic variations in proteins like S, C, and antithrombin are known to play a role in VTE, some cases remain unexplained. This study aims to investigate other genetic variations, including Protein Z (rs3024731), FV (rs1800595), and FGA (rs6050), to understand their potential association with VTE risk. The study included 118 VTE patients and 118 healthy individuals with no history of thromboembolic disorders. Blood samples were collected from the patients for DNA extraction, and genotyping was carried out using the amplification refractory mutation system-PCR (ARMS-PCR) technique. The results were validated through DNA sequencing. Data analysis was done using SPSS 27 software. Analysis has revealed significant differences in the genotypic and allelic frequencies of the rs1800595 polymorphism between the control and case groups. It was found that individuals with the AG genotype had a 2.22 times higher likelihood of experiencing thrombophilia events [odds ratio (OR) = 2.229, P = 0.039, confidence interval (CI) = 95%], while the G allele increased the risk by 2.103 times (OR = 2.103, P = 0.047, CI = 95%). No significant correlation was observed between VTE and the rs3024731 and rs6050 polymorphisms. The rs1800595 polymorphism in the FV gene may be associated with an increased risk of thrombophilia in VTE patients.