Polymorphism of folate metabolism genes and thrombotic complications in patients with functionally single ventricle
https://doi.org/10.29001/2073-8552-2021-36-4-86-91
Abstract
Aim. To analyze the relationships between the carriage of polymorphic variants in the folate metabolism genes and the development of thrombotic complications in patients with single ventricle (SV) during surgical treatment.
Material and Methods. A total of 102 children with SV were examined in the performed research. All patients underwent surgical hemodynamic correction of congenital heart disease (CHD). According to a retrospective chart review, thrombosis was diagnosed in 12.7 % of the examined patients with SV. The analysis of polymorphism in the MTR A2756G enzyme gene revealed significant differences between the groups of patients with a history of thrombosis and without it.
Results. We found that the risk of developing thrombosis was associated with the carriage of homozygous genotype 2756AA of the MTR enzyme gene (OR = 11.21; 95% CI: 1.39–89.96; p = 0.023).
About the Authors
J. G. Lugacheva
Cardiology Research Institute, Tomsk National Research Medical Centre, Russian Academy of Sciences
Russian Federation
Russian Federation
Cand. Sci. (Med.), Doctor of Clinical Laboratory Diagnostics, Clinical Diagnostic Laboratory
111a, Kievskaya str., Tomsk, 634012, Russian Federation
T. E. Suslova
Cardiology Research Institute, Tomsk National Research Medical Centre, Russian Academy of Sciences
Russian Federation
Russian Federation
Cand. Sci. (Med.), Head of the Clinical Diagnostic Laboratory
111a, Kievskaya str., Tomsk, 634012, Russian Federation
I. V. Kulagina
Cardiology Research Institute, Tomsk National Research Medical Centre, Russian Academy of Sciences
Russian Federation
Russian Federation
Cand. Sci. (Med.), Chief of the Clinical Diagnostic Laboratory
111a, Kievskaya str., Tomsk, 634012, Russian Federation
E. V. Krivoshchekov
Cardiology Research Institute, Tomsk National Research Medical Centre, Russian Academy of Sciences
Russian Federation
Russian Federation
Dr. Sci. (Med.), Head of the Department of Cardiac Surgery No. 2
111a, Kievskaya str., Tomsk, 634012, Russian Federation
O. S. Yanulevich
Cardiology Research Institute, Tomsk National Research Medical Centre, Russian Academy of Sciences
Russian Federation
Russian Federation
Cand. Sci. (Med.), Pediatric Cardiologist, Cardiac Surgery No. 2
111a, Kievskaya str., Tomsk, 634012, Russian Federation
References
1. Azzini E., Ruggeri S., Polito A. Homocysteine: Its possible emerging role in at-risk population groups. Int. J. Mol. Sciences. 2020;21(4):1421. DOI: 10.3390/ijms21041421.
2. Strozenko L.A., Lobanov Yu.F., Cherepanova L.A., Kolesnikova M.A., Snigir O.A., Koroleva E.A. et al. Quality of life of adolescents-carriers of folate cycle gene polymorphisms. Russian Pediatric Journal. 2017;20(1):11–18 (In Russ.). DOI: 10.18821/1560-9561-2017-20-1-11-18.
3. Klaassen I.L.M., van Ommen C.H., Middeldorp S. Manifestations and clinical impact of pediatric inherited thrombophilia Irene. Blood. 2015;125(7):1073–1077. DOI: 10.1182/blood-2014-05-536060.
4. Yang J.Y.K., Chan A.K.C. Pediatric thrombophilia. Pediatr. Clin. North. Am. 2013;60(6):1443–1462. DOI: 10.1016/j.pcl.2013.09.004.
5. Alioglu B., Avci Z., Tokel K., Atac F.B., Ozbek N. Thrombosis in children with cardiac pathology: analysis of acquired and inherited risk factors. Blood Coagul. Fibrinolysis. 2008;19(4):294–304. DOI: 10.1097/MBC.0b013e3282fe73b1.
6. Malbora B., Ozbek N., Avci Z., Verdi H., Alioglu B., Varan B. et al. Role of thrombophilic mutations in childhood cardiac and great vessel thrombosis. Journal of Pediatric Sciences. 2014;6:e218.
7. De Leval M.R., Deanfi eld J.E. Four decades of Fontan palliation. Nat. Rev. Cardiol. 2010;7(9):520–527. DOI: 10.1038/nrcardio.2010.99.
8. Lugacheva Yu.G., Kulagina I.V., Kovalev L.A., Krivoshchekov E.V., Yanulevich O.S., Plotnikova I.V. et al. The distribution of allelic variants in the folate cycle enzyme genes and the level of homocysteine in patients with congenital heart disease and functional single ventricle. Russian Bulletin of Perinatology and Pediatrics. 2015;60(6):55–59 (In Russ.).
9. Berezovskaya T.S., Miromanova N.A. Diagnostic meaning of determination of homocystein in the blood serum in children with neuroinfections. Journal Infectology. 2018;10(1):42–46 (In Russ.). DOI: 10.22625/2072-6732-2018-10-1-42-46.
10. Kenet G., Lutkhoff L.K., Albisetti M., Bernard T., Bonduel M., Brandao L. et al. Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinonenosus thrombosis in neonates and children: A systematic review and meta-analysis of observational studies. Circulation. 2010;121(16):1838–1847. DOI: 10.1161/CIRCULATIONAHA.109.913673.
11. Nowak-Gottl U., Janssen V., Manner D. Venous thromboembolism in neonates and children—update 2013. Thromb. Res. 2013;131(1):S39–S41. DOI: 10.1016/S0049-3848(13)70019-7.
12. Kim O.J., Hong S.P., Ahn J.Y., Hong S.H., Hwang T.S., Kim S.O. et al. Infl uence of combined methionine synthase (MTR 2756A>G) and methylentetrahydrofolate reductase (MTHFR 677 C>T) polymorphisms to plasma homocysteine levels in Korean patients with ischemic stroke. Yonsei Med. J. 2007;48(2):201–209. DOI: 10.3349/ymj.2007.48.2.201.
13. Miller S.P., Wu Y.W., Lee J., Lammer E.J., Iovannisci D.M., Glidden D.V. et al. Candidate gene polymorphisms do not diff er between newborns with stroke and normal controls. Stroke. 2006;37(11):2678–2683. DOI: 10.1161/01.STR.0000244810.91105.c9.
14. Lugacheva Yu.G., Kulagina I.V., Kovalev I.A., Krivoschekov Y.V., Yanulevich O.S., Suslova T.E. Risk factors of thrombotic complications in patients with single functional ventricle. Russian Bulletin of Perinatology and Pediatrics. 2019;64(2):68–74 (In Russ.). DOI: 10.21508/1027-4065-2019-64-2-68-74.
Review
For citations:
Lugacheva J.G., Suslova T.E., Kulagina I.V., Krivoshchekov E.V., Yanulevich O.S. Polymorphism of folate metabolism genes and thrombotic complications in patients with functionally single ventricle. Siberian Journal of Clinical and Experimental Medicine. 2021;36(4):86-91. (In Russ.) https://doi.org/10.29001/2073-8552-2021-36-4-86-91
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