Association study of polymorphism in Thrombomodulin gene (rs1042579) with cardiovascular disease

BACKGROUND AND AIM: Thrombomodulin (THBD) gene plays an important role in activation and control of protein C. Regulation protein C levels as an important risk factor for cardiovascular disease. Mutations in this gene can affect thrombomodulin levels. In this study, we aimed to investigate the role of rs1042579 SNP within THBD gene in patients with cardiovascular disease. METHODS: The samples of this case-control study consisted of 105 Iranian patients with cardiovascular disease and 95 controls who were free of CVD events enrolled from March 2017 to December 2018 in this study. Demographic data, medical history, and para-clinical were measured. Genotyping was carried out using ARMS-PCR technique and Sanger sequencing was used. Twenty percent of the samples were sequenced to confirm the result of the genotyping. RESULTS: Data analysis revealed that the rs1042579 within THBD gene was associated with a risk of cardiovascular disease. Molecular assay confirmed that TT genotype is a factor associated with CVD in patients compared to healthy controls. CONCLUSION: The results of this study showed that the rs1042579 was associated with an increased risk of cardiovascular disease. (www.actabiomedica.it)