Research Article
BibTex RIS Cite

Year 2023, , 62 - 68, 31.12.2023

Malik Ejder Yıldırım

https://doi.org/10.7197/cmj.1373358

Abstract

References

  • 1. Malakar AK, Choudhury D, Halder B, Paul P, Uddin A, Chakraborty S. A review on coronary artery disease, its risk factors, and therapeutics. J Cell Physiol. 2019;234(10):16812-23.
  • 2. Buntsma N, van der Pol E, Nieuwland R, Gąsecka A. Extracellular Vesicles in Coronary Artery Disease Adv Exp Med Biol. 2023;1418:81-103.
  • 3. Lu L, Liu M, Sun R, Zheng Y, Zhang P. Myocardial Infarction: Symptoms and Treatments. Cell Biochem Biophys. 2015 Jul;72(3):865-7.
  • 4. Truesdell AG, Alasnag MA, Kaul P, Rab ST, Riley RF, Young MN, et al. Intravascular Imaging During Percutaneous Coronary Intervention: JACC State-of-the-Art Review. J Am Coll Cardiol. 2023;81(6):590-605.
  • 5. Park HS, Sung JH, Ryu CS, Lee JY, Ko EJ, Kim IJ, The Synergistic Effect of Plasminogen Activator Inhibitor-1 (PAI-1) Polymorphisms and Metabolic Syndrome on Coronary Artery Disease in the Korean Population. J Pers Med. 2020 Nov 28;10(4):257.
  • 6. Abd El-Aziz TA, Rezk NA. Relation of PAI-1 and TPA genes polymorphisms to acute myocardial infarction and its outcomes in Egyptian patients. Cell Biochem Biophys. 2015;71(1):227-34.
  • 7. Mlynarska A, Waszyrowski T, Kasprzak JD. Increase in plasma plasminogen activators inhibitor type 1 concentration after fibrinolytic treatment in patients with acute myocardial infarction is associated with 4G/5G polymorphism of PAI-1 gene. J Thromb Haemost. 2006;4(6):1361-6.
  • 8. Li L, Yu H, Zhang H, Wang J, Hu W. Association between MTHFR C677T polymorphism and risk of coronary artery disease in the Chinese population: meta-analysis. Herz. 2022;47(6):553-563.
  • 9. Uçar F, Celik S, Yücel B, Sönmez M, Celep F, Erkut N. MTHFR C677T polymorphism and its relationship to myocardial infarction in the Eastern Black Sea region of Turkey. Arch Med Res. 2011;42(8):709-12.
  • 10. Rallidis LS, Gialeraki A, Fountoulaki K, Politou M, Sourides V, Travlou A, et al. G-455A polymorphism of beta-fibrinogen gene and the risk of premature myocardial infarction in Greece. Thromb Res. 2010;125(1):34-7.
  • 11. Gemmati D, Tognazzo S, Catozzi L, Federici F, De Palma M, Gianesini S, et al. Influence of gene polymorphisms in ulcer healing process after superficial venous surgery. Vasc Surg. 2006;44(3):554-62.
  • 12. Chen F, Qiao Q, Xu P, Fan B, Chen Z. Effect of factor XIII- A Val34Leu polymorphism on myocardial infarction risk: a meta-analysis. Clin Appl Thromb Hemost. 2014;20(8):783-92.
  • 13. Khera AV, Kathiresan S. Genetics of coronary artery disease: discovery, biology and clinical translation. Nat Rev Genet. 2017 Jun;18(6):331-344.
  • 14. Yalım Z, Tutgun Onrat S, Alan S, Aldemir M, Avşar A, Doğan İ, et al. The effects of genetic polymorphisms and diabetes mellitus on the development of peripheral artery disease. Turk Kardiyol Dern Ars. 2020;48(5):484-493.
  • 15. Jiang S, Wang Y, Chen L, Mu H, Meaney C, Fan Y, et al. PAI-1 genetic polymorphisms influence septic patients' outcomes by regulating neutrophil activity. Chin Med J (Engl). 2023;136(16):1959-1966. 16. Donmez HG, Beksac MS. Association of single nucleotide polymorphisms (4G/5G) of plasminogen activator inhibitor-1 and the risk factors for placenta-related obstetric complications. Blood Coagul Fibrinolysis. 2023 Sep 1;34(6):396-402.
  • 17. Zhang Q, Jin Y, Li X, Peng X, Peng N, Song J, et al. Plasminogen activator inhibitor-1 (PAI-1) 4G/5G promoter polymorphisms and risk of venous thromboembolism - a meta-analysis and systematic review. Vasa. 2020;49(2):141-146.
  • 18. Lima LM, Carvalho Md, Fonseca Neto CP, Garcia JC, Sousa MO. PAI-1 4G/5G polymorphism and plasma levels association in patients with coronary artery disease. Arq Bras Cardiol. 2011;97(6):462-89.
  • 19. Raghubeer S, Matsha TE. Methylenetetrahydrofolate (MTHFR), the One-Carbon Cycle, and Cardiovascular Risks. Nutrients. 2021;13(12):4562.
  • 20. Shivkar RR, Gawade GC, Padwal MK, Diwan AG, Mahajan SA, Kadam CY. Association of MTHFR C677T (rs1801133) and A1298C (rs1801131) Polymorphisms with Serum Homocysteine, Folate and Vitamin B12 in Patients with Young Coronary Artery Disease. Indian J Clin Biochem. 2022 Apr;37(2):224-231.
  • 21. Friso S, Girelli D, Trabetti E, Stranieri C, Olivieri O, Tinazzi E, et al. A1298C methylenetetrahydrofolate reductase mutation and coronary artery disease: relationships with C677T polymorphism and homocysteine/folate metabolism. Clin Exp Med. 2002;2(1):7-12.
  • 22. Lupi-Herrera E, Soto-López ME, Lugo-Dimas AJ, Núñez-Martínez ME, Gamboa R, Huesca-Gómez C, et al. Polymorphisms C677T and A1298C of MTHFR Gene: Homocysteine Levels and Prothrombotic Biomarkers in Coronary and Pulmonary Thromboembolic Disease. Clin Appl Thromb Hemost. 2019; 25:1076029618780344.
  • 23. Husemoen LL, Skaaby T, Jørgensen T, Thuesen BH, Fenger M, Grarup N, et al. MTHFR C677T genotype and cardiovascular risk in a general population without mandatory folic acid fortification. Eur J Nutr. 2014;53(7):1549-59.
  • 24. Inbal A, Dardik R. Role of coagulation factor XIII (FXIII) in angiogenesis and tissue repair. Pathophysiol Haemost Thromb. 2006;35(1-2):162-5.
  • 25. Duval C, Ali M, Chaudhry WW, Ridger VC, Ariëns RA, Philippou H. Factor XIII A-Subunit V34L Variant Affects Thrombus Cross-Linking in a Murine Model of Thrombosis. Arterioscler Thromb Vasc Biol. 2016;36(2):308-16.
  • 26. Golenia A, Chrzanowska-Wasko J, Jagiella J, Wnuk M, Ferens A, Klimkowicz-Mrowiec A, et al. The β-fibrinogen -455G/A gene polymorphism and the risk of ischaemic stroke in a Polish population. Neurol Neurochir Pol. 2013;47(2):152-6.
  • 27. Lu XF, Yu HJ, Zhou XY, Wang LY, Huang JF, Gu DF. Influence of fibrinogen beta-chain gene variations on risk of myocardial infarction in a Chinese Han population. Chin Med J (Engl). 2008;121(16):1549-53
  • 28. Chen X, Xu M, Jin L, Chen J, Chen W. Association of beta-fibrinogen gene -148C/T and -455G/A polymorphisms and coronary artery disease in Chinese population: a meta-analysis. Sci China C Life Sci. 2008;51(9):814-20.

Thrombophilic gene variants in patients with coronary artery disease and myocardial infarction

Year 2023, , 62 - 68, 31.12.2023

Malik Ejder Yıldırım

https://doi.org/10.7197/cmj.1373358

Abstract

Background and aim: Coronary artery disease (CAD) and myocardial infarction (MI) are cardiovascular diseases that occur due to atherosclerosis (plaque formation) or atherosclerotic obstruction of the coronary arteries. Their genetic basis has been under investigation for a long time, and common variant studies link different genetic loci with these diseases. In this study, we investigated the possible association of coronary artery disease and myocardial infarction with thrombophilic gene variants, including MTHFR C677T and A1298C, Beta fibrinogen -455G/A, Factor XIIIV34L and PAI-1 4G/5G single nucleotide polymorphisms (SNPs).
Methods: A total of 128 people (64 patients and 64 controls) were included in the study. Genomic DNA was isolated using the EZ1 blood mini kit. The DNA was amplified and PCR was performed using the PyroMark PCR Kit (Qiagen, Germany). Pyrosequencing reaction was completed by processing with PyroMark Q24 instrument.
Results: We found that the PAI-1 4G/5G polymorphism and the 4G allele were significantly associated with coronary artery disease and myocardial infarction (P= 0.01). Although mutant variants were higher in patients, no statistically significant difference was observed between the patient and control groups in terms of FXIII, Beta-fibrinogen and MTHFR variants.
Conclusions: It is clear that the PAI-1 4G allele and the 4G/4G genotype have a significant contribution to the development of coronary artery disease and ultimately myocardial infarction. Prophylactic treatment should be considered in patients with this variant.

Keywords

Coronary artery disease myocardial infarction PAI-1 MTHFR Beta fibrinogen Factor XIII.

References

  • 1. Malakar AK, Choudhury D, Halder B, Paul P, Uddin A, Chakraborty S. A review on coronary artery disease, its risk factors, and therapeutics. J Cell Physiol. 2019;234(10):16812-23.
  • 2. Buntsma N, van der Pol E, Nieuwland R, Gąsecka A. Extracellular Vesicles in Coronary Artery Disease Adv Exp Med Biol. 2023;1418:81-103.
  • 3. Lu L, Liu M, Sun R, Zheng Y, Zhang P. Myocardial Infarction: Symptoms and Treatments. Cell Biochem Biophys. 2015 Jul;72(3):865-7.
  • 4. Truesdell AG, Alasnag MA, Kaul P, Rab ST, Riley RF, Young MN, et al. Intravascular Imaging During Percutaneous Coronary Intervention: JACC State-of-the-Art Review. J Am Coll Cardiol. 2023;81(6):590-605.
  • 5. Park HS, Sung JH, Ryu CS, Lee JY, Ko EJ, Kim IJ, The Synergistic Effect of Plasminogen Activator Inhibitor-1 (PAI-1) Polymorphisms and Metabolic Syndrome on Coronary Artery Disease in the Korean Population. J Pers Med. 2020 Nov 28;10(4):257.
  • 6. Abd El-Aziz TA, Rezk NA. Relation of PAI-1 and TPA genes polymorphisms to acute myocardial infarction and its outcomes in Egyptian patients. Cell Biochem Biophys. 2015;71(1):227-34.
  • 7. Mlynarska A, Waszyrowski T, Kasprzak JD. Increase in plasma plasminogen activators inhibitor type 1 concentration after fibrinolytic treatment in patients with acute myocardial infarction is associated with 4G/5G polymorphism of PAI-1 gene. J Thromb Haemost. 2006;4(6):1361-6.
  • 8. Li L, Yu H, Zhang H, Wang J, Hu W. Association between MTHFR C677T polymorphism and risk of coronary artery disease in the Chinese population: meta-analysis. Herz. 2022;47(6):553-563.
  • 9. Uçar F, Celik S, Yücel B, Sönmez M, Celep F, Erkut N. MTHFR C677T polymorphism and its relationship to myocardial infarction in the Eastern Black Sea region of Turkey. Arch Med Res. 2011;42(8):709-12.
  • 10. Rallidis LS, Gialeraki A, Fountoulaki K, Politou M, Sourides V, Travlou A, et al. G-455A polymorphism of beta-fibrinogen gene and the risk of premature myocardial infarction in Greece. Thromb Res. 2010;125(1):34-7.
  • 11. Gemmati D, Tognazzo S, Catozzi L, Federici F, De Palma M, Gianesini S, et al. Influence of gene polymorphisms in ulcer healing process after superficial venous surgery. Vasc Surg. 2006;44(3):554-62.
  • 12. Chen F, Qiao Q, Xu P, Fan B, Chen Z. Effect of factor XIII- A Val34Leu polymorphism on myocardial infarction risk: a meta-analysis. Clin Appl Thromb Hemost. 2014;20(8):783-92.
  • 13. Khera AV, Kathiresan S. Genetics of coronary artery disease: discovery, biology and clinical translation. Nat Rev Genet. 2017 Jun;18(6):331-344.
  • 14. Yalım Z, Tutgun Onrat S, Alan S, Aldemir M, Avşar A, Doğan İ, et al. The effects of genetic polymorphisms and diabetes mellitus on the development of peripheral artery disease. Turk Kardiyol Dern Ars. 2020;48(5):484-493.
  • 15. Jiang S, Wang Y, Chen L, Mu H, Meaney C, Fan Y, et al. PAI-1 genetic polymorphisms influence septic patients' outcomes by regulating neutrophil activity. Chin Med J (Engl). 2023;136(16):1959-1966. 16. Donmez HG, Beksac MS. Association of single nucleotide polymorphisms (4G/5G) of plasminogen activator inhibitor-1 and the risk factors for placenta-related obstetric complications. Blood Coagul Fibrinolysis. 2023 Sep 1;34(6):396-402.
  • 17. Zhang Q, Jin Y, Li X, Peng X, Peng N, Song J, et al. Plasminogen activator inhibitor-1 (PAI-1) 4G/5G promoter polymorphisms and risk of venous thromboembolism - a meta-analysis and systematic review. Vasa. 2020;49(2):141-146.
  • 18. Lima LM, Carvalho Md, Fonseca Neto CP, Garcia JC, Sousa MO. PAI-1 4G/5G polymorphism and plasma levels association in patients with coronary artery disease. Arq Bras Cardiol. 2011;97(6):462-89.
  • 19. Raghubeer S, Matsha TE. Methylenetetrahydrofolate (MTHFR), the One-Carbon Cycle, and Cardiovascular Risks. Nutrients. 2021;13(12):4562.
  • 20. Shivkar RR, Gawade GC, Padwal MK, Diwan AG, Mahajan SA, Kadam CY. Association of MTHFR C677T (rs1801133) and A1298C (rs1801131) Polymorphisms with Serum Homocysteine, Folate and Vitamin B12 in Patients with Young Coronary Artery Disease. Indian J Clin Biochem. 2022 Apr;37(2):224-231.
  • 21. Friso S, Girelli D, Trabetti E, Stranieri C, Olivieri O, Tinazzi E, et al. A1298C methylenetetrahydrofolate reductase mutation and coronary artery disease: relationships with C677T polymorphism and homocysteine/folate metabolism. Clin Exp Med. 2002;2(1):7-12.
  • 22. Lupi-Herrera E, Soto-López ME, Lugo-Dimas AJ, Núñez-Martínez ME, Gamboa R, Huesca-Gómez C, et al. Polymorphisms C677T and A1298C of MTHFR Gene: Homocysteine Levels and Prothrombotic Biomarkers in Coronary and Pulmonary Thromboembolic Disease. Clin Appl Thromb Hemost. 2019; 25:1076029618780344.
  • 23. Husemoen LL, Skaaby T, Jørgensen T, Thuesen BH, Fenger M, Grarup N, et al. MTHFR C677T genotype and cardiovascular risk in a general population without mandatory folic acid fortification. Eur J Nutr. 2014;53(7):1549-59.
  • 24. Inbal A, Dardik R. Role of coagulation factor XIII (FXIII) in angiogenesis and tissue repair. Pathophysiol Haemost Thromb. 2006;35(1-2):162-5.
  • 25. Duval C, Ali M, Chaudhry WW, Ridger VC, Ariëns RA, Philippou H. Factor XIII A-Subunit V34L Variant Affects Thrombus Cross-Linking in a Murine Model of Thrombosis. Arterioscler Thromb Vasc Biol. 2016;36(2):308-16.
  • 26. Golenia A, Chrzanowska-Wasko J, Jagiella J, Wnuk M, Ferens A, Klimkowicz-Mrowiec A, et al. The β-fibrinogen -455G/A gene polymorphism and the risk of ischaemic stroke in a Polish population. Neurol Neurochir Pol. 2013;47(2):152-6.
  • 27. Lu XF, Yu HJ, Zhou XY, Wang LY, Huang JF, Gu DF. Influence of fibrinogen beta-chain gene variations on risk of myocardial infarction in a Chinese Han population. Chin Med J (Engl). 2008;121(16):1549-53
  • 28. Chen X, Xu M, Jin L, Chen J, Chen W. Association of beta-fibrinogen gene -148C/T and -455G/A polymorphisms and coronary artery disease in Chinese population: a meta-analysis. Sci China C Life Sci. 2008;51(9):814-20.
There are 27 citations in total.

Details

Primary Language English
Subjects Multimorbidity
Journal Section Medical Science Research Articles
Authors

Malik Ejder Yıldırım 0000-0003-4386-1583

Publication Date December 31, 2023
Acceptance Date December 25, 2023
Published in Issue Year 2023

Cite

AMA Yıldırım ME. Thrombophilic gene variants in patients with coronary artery disease and myocardial infarction. CMJ. December 2023;45(4):62-68. doi:10.7197/cmj.1373358