Association study of polymorphism in Thrombomodulin gene [rs1042579] with cardiovascular disease

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Elham Khosravi
Ladan Sadeghian
Parisa Mohamadynejad
Minoo Dianatkhah
Mahsa Hajizadeh
Mojgan Gharipour


THBD, cardiovascular disease, rs1042579, Iran


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 single nucleotide polymorphism (SNP) in rs1042579 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 healthy controls who enrolled from March 2017 to December 2018 in this study.  Demographic data, medical history, and para-clinical were measured, and Sanger sequencing was used for allelic discrimination. Control samples were identified and then selected for genotyping of other ARMS-PCR technique.

Results: Data analysis revealed that the rs1042579 polymorphism of the THBD gene was associated with a risk of coronary heart disease. Sequencing results confirmed the existence of CC homozygous, heterozygous TC and TT homozygous genotypes. TT genotype is a risk factor in patients compared to healthy controls.

Conclusion: The results of this study showed that the rs1042579 polymorphism was associated with an increased risk of cardiovascular disease.


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1. Forouzanfar MH, Sepanlou SG, Shahraz S, BESc PN, Pourmalek F, Lozano R, et al. Evaluating causes of death and morbidity in Iran, global burden of diseases, injuries, and risk factors study 2010. Arch Iran Med. 2014;17(5):304.
2. Naghavi MJTTP. Features of death in 18 province of Iran in 2000. Tandis Publications 2002.
3. Bosch J, Yusuf S, Pogue J, et al. Use of ramipril in preventing stroke: double blind randomised trial. Bmj. 2002;324(7339):699.
4. Bovet P, Burnier M, Madeleine G, Waeber B, Paccaud FJBotwho. Monitoring one-year compliance to antihypertension medication in the Seychelles. ull World Health Organ. 2002;80:33-9.
5. Sadler JEJT, haemostasis. Thrombomodulin structure and function. Thromb. Haemost. 1997;78(01):392-5.
6. Esmon CTJTFJ. Thrombomodulin as a model of molecular mechanisms that modulate protease specificity and function at the vessel surface. FASEB J. 1995;9(10):946-55.
7. Walker FJJJoBC. Regulation of activated protein C by protein S. The role of phospholipid in factor Va inactivation. Biol Chem. 1981;256(21):11128-31.
8. Lobato RL, White WD, Mathew JP, et al. Thrombomodulin gene variants are associated with increased mortality after coronary artery bypass surgery in replicated analyses. Circulation. 2011;124(11_suppl_1):S143-S8.
9. Gharipour M, Sadeghi M, Salehi M, et al. Association of expression of selenoprotein P in mRNA and protein levels with metabolic syndrome in subjects with cardiovascular disease: Results of the Selenegene study.
J. Gene Med. 2017;19(3): e2945.
10. MWer S, Dykes D, Polesky HJNar. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16:1215.
11. Kannan S, Mahadevan S, Ramji B, Jayapaul M, Kumaravel V. LDL-cholesterol: Friedewald calculated versus direct measurement-study from a large Indian laboratory database. Indian journal of endocrinology and metabolism. Indian J Endocr Metab. 2014;18(4):502.
12. Okura Y, Kato K, Hanawa H, et al. Pericardial mesothelioma secreting thrombomodulin. Am Heart J. 1996;132(6):1309-11.
13. Tsiang M, Lentz S, Sadler JJJoBC. Functional domains of membrane-bound human thrombomodulin. EGF-like domains four to six and the serine/threonine-rich domain are required for cofactor activity. J Biol Chem. 1992;267(9):6164-70.
14. Conway EM, Rosenberg RDJM, biology c. Tumor necrosis factor suppresses transcription of the thrombomodulin gene in endothelial cells. Mol Cell Biol. 1988;8(12):5588-92.
15. Auer PL, Stitziel NOJTicm. Genetic association studies in cardiovascular diseases: do we have enough power?. Trends Cardiovas Med 2017;27(6):397-404.
16. Nan B, Lin P, Lumsden AB, Yao Q, Chen CJTr. Effects of TNF-α and curcumin on the expression of thrombomodulin and endothelial protein C receptor in human endothelial cells. Thromb. Res. 2005;115(5):417-26.

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