Vol 58, No 4 (2024)
Invited Editorial
Published online: 2024-08-05

open access

Page views 130
Article views/downloads 87
Get Citation

Connect on Social Media

Connect on Social Media

SERPINE1 and MTHFR variants: key targets in the search for genetic determinants in ESUS?

Anetta Lasek-Bal1
Pubmed: 39101648
Neurol Neurochir Pol 2024;58(4):360-362.

Abstract

Not available

Article available in PDF format

View PDF Download PDF file

References

  1. Hart RG, Diener HC, Coutts SB, et al. Cryptogenic Stroke/ESUS International Working Group. Embolic strokes of undetermined source: the case for a new clinical construct. Lancet Neurol. 2014; 13(4): 429–438.
  2. Umemura T, Nishizawa S, Nakano Y, et al. Importance of Finding Embolic Sources for Patients with Embolic Stroke of Undetermined Source. J Stroke Cerebrovasc Dis. 2019; 28(7): 1810–1815.
  3. Hart RG, Catanese L, Perera KS, et al. Embolic Stroke of Undetermined Source: A Systematic Review and Clinical Update. Stroke. 2017; 48(4): 867–872.
  4. Gils A, Declerck PJ. The structural basis for the pathophysiological relevance of PAI-I in cardiovascular diseases and the development of potential PAI-I inhibitors. Thromb Haemost. 2004; 91(3): 425–437.
  5. Franchini M, Martinelli I, Mannucci PM. Uncertain thrombophilia markers. Thromb Haemost. 2016; 115(1): 25–30.
  6. De Meyer SF, Andersson T, Baxter B, et al. Clot Summit Group. Analyses of thrombi in acute ischemic stroke: A consensus statement on current knowledge and future directions. Int J Stroke. 2017; 12(6): 606–614.
  7. Panahloo A, Mohamed-Ali V, Lane A, et al. Determinants of plasminogen activator inhibitor 1 activity in treated NIDDM and its relation to a polymorphism in the plasminogen activator inhibitor 1 gene. Diabetes. 1995; 44(1): 37–42.
  8. Nikolopoulos GK, Bagos PG, Tsangaris I, et al. The association between plasminogen activator inhibitor type 1 (PAI-1) levels, PAI-1 4G/5G polymorphism, and myocardial infarction: a Mendelian randomization meta-analysis. Clin Chem Lab Med. 2014; 52(7): 937–950.
  9. Attia J, Thakkinstian A, Wang Y, et al. The PAI-1 4G/5G gene polymorphism and ischemic stroke: an association study and meta-analysis. J Stroke Cerebrovasc Dis. 2007; 16(4): 173–179.
  10. Karttunen V, Alfthan G, Hiltunen L, et al. Risk factors for cryptogenic ischaemic stroke. Eur J Neurol. 2002; 9(6): 625–632.
  11. Sabater-Lleal M, Huffman JE, de Vries PS, et al. INVENT Consortium; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC). Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. Circulation. 2019; 139(5): 620–635.
  12. Klajmon A, Ząbczyk M, Undas A, et al. SERPINE1 and MTHFR genetic variants in patients with embolic stroke of undetermined source: links with fibrin clot properties. Neurol Neurochir Pol. 2024 [Epub ahead of print].
  13. Franchini M, Veneri D, Salvagno G, et al. Inherited Thrombophilia. Critical Reviews in Clinical Laboratory Sciences. 2008; 43(3): 249–290.
  14. Eldibany MM, Caprini JA. Hyperhomocysteinemia and thrombosis: an overview. Arch Pathol Lab Med. 2007; 131(6): 872–884.
  15. Frederiksen J, Juul K, Grande P, et al. Methylenetetrahydrofolate reductase polymorphism (C677T), hyperhomocysteinemia, and risk of ischemic cardiovascular disease and venous thromboembolism: prospective and case-control studies from the Copenhagen City Heart Study. Blood. 2004; 104(10): 3046–3051.
  16. Bezemer ID, Doggen CJM, Vos HL, et al. No association between the common MTHFR 677C->T polymorphism and venous thrombosis: results from the MEGA study. Arch Intern Med. 2007; 167(5): 497–501.
  17. Simone B, De Stefano V, Leoncini E, et al. Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls. Eur J Epidemiol. 2013; 28(8): 621–647.
  18. Wei LK, Au A, Menon S, et al. Polymorphisms of MTHFR, eNOS, ACE, AGT, ApoE, PON1, PDE4D, and Ischemic Stroke: Meta-Analysis. J Stroke Cerebrovasc Dis. 2017; 26(11): 2482–2493.
  19. Chang G, Kuai Z, Wang J, et al. The association of MTHFR C677T variant with increased risk of ischemic stroke in the elderly population: a meta-analysis of observational studies. BMC Geriatr. 2019; 19(1): 331.
  20. Zhou Q, Xu Z, Duan Y, et al. MTHFR C677T, hyperhomocysteinemia, and their interactions with traditional risk factors in early neurological deterioration in Chinese patients with ischemic stroke. Heliyon. 2024; 10(10): e31003.
  21. Sikora M, Bretes E, Perła-Kaján J, et al. Homocysteine thiolactone and other sulfur-containing amino acid metabolites are associated with fibrin clot properties and the risk of ischemic stroke. Sci Rep. 2024; 14(1): 11222.
  22. Farkowski MM, Karliński MA, Kaźmierczak J, et al. Statement by a Working Group conceived by the Polish National Consultants in Cardiology and Neurology addressing the use of implantable cardiac monitors in patients after ischaemic embolic stroke of undetermined source. Neurol Neurochir Pol. 2019; 53(3): 181–189.