Литература

1. McCully K.S. Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. Am. J. Pathol. 1969; 56 (1): 111–128.
2. Султанова О.Э., Чернышева Е.Н., Коханов А.В., Севостьянова И.В. Эволюция тренда исследований гомоцистеина в кардиологической практике. Современные проблемы науки и образования. 2020; 4. DOI: 10.17513/spno.29937
3. Della Corte V., Todaro F., Cataldi M., Tuttolomondo A. atherosclerosis and its related laboratory biomarkers. Int. J. Mol. Sci. 2023; 24 (21): 15546. DOI: 10.3390/ijms242115546
4. Valeriani E., Pastori D., Astorri G., Porfidia A., Meni-chelli D., Pignatelli P. Factor V Leiden, prothrombin, MTHFR, and PAI-1 gene polymorphisms in patients with arterial disease: a comprehensive systematic-review and meta-analysis. Thromb. Res. 2023; 230: 74–83. DOI: 10.1016/j.thromres.2023.08.006
5. Guo J., Gao Y., Ahmed M., Dong P., Gao Y., Gong Z. et al. Serum homocysteine level predictive capability for severity of restenosis post percutaneous coronary intervention. Front. Pharmacol. 2022; 13: 816059. DOI: 10.3389/fphar.2022.816059
6. McCully K.S. Hyperhomocysteinemia and arteriosclerosis: historical perspectives. Clin. Chem. Lab. Med. 2005; 43 (10): 980–986. DOI: 10.1515/CCLM.2005.172
7. Froese D.S., Huemer M., Suormala T., Burda P., Coelho D., Guéant J.L. et al. mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Hum. Mutat. 2016; 37 (5): 427–438. DOI: 10.1002/humu.22970
8. Mudd S.H., Uhlendorf B.W., Freeman J.M., Finkelstein J.D., Shih V.E. Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity. Biochem. Biophys. Res. Commun. 1972; 46 (2): 905–912. DOI: 10.1016/s0006-291x(72)80227-4
9. Kang S.S., Wong P.W., Zhou J.M., Sora J., Lessick M., Ruggie N., Grcevich G. Thermolabile methylenetetra-hydrofolate reductase in patients with coronary artery disease. Metabolism. 1988; 37 (7): 611–613. DOI: 10.1016/0026-0495(88)90076-5
10. Shiran A., Remer E., Asmer I., Karkabi B., Zittan E., Cassel A. et al. Association of Vitamin B12 Deficiency with Homozygosity of the TT MTHFR C677T genotype, hyperhomocysteinemia, and endothelial cell dysfunction. Isr. Med. Assoc. J. 2015; 17 (5): 288–292.
11. Raghubeer S., Matsha T.E. Methylenetetrahydrofolate (MTHFR), the One-Carbon Cycle, and Cardiovascular Risks. Nutrients. 2021; 13 (12): 4562. DOI: 10.3390/nu13124562
12. Tanaka T., Scheet P., Giusti B., Bandinelli S., Piras M.G., Usala G. et al. Genomewide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am. J. Hum. Genet. 2009; 84 (4): 477–482. DOI: 10.1016/j.ajhg.2009.02.011
13. Wilcken B. Medicine. Newborn screening: gaps in the evidence. Science. 2013; 342 (6155): 197–198. DOI: 10.1126/science.1243944
14. Dedoussis G.V., Panagiotakos D.B., Pitsavos C., Chrysohoou C., Skoumas J., Choumerianou D., Stefanadis C. ATTICA Study Group. An association between the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and inflammation markers related to cardiovascular disease. Int. J. Cardiol. 2005; 100 (3): 409–414. DOI: 10.1016/j.ijcard.2004.08.038
15. Khalighi K., Cheng G., Mirabbasi S., Khalighi B., Wu Y., Fan W. Opposite impact of Methylene tetra-hydrofolate reductase C677T and Methylene tetrahyd-rofolate reductase A1298C gene polymorphisms on systemic inflammation. J. Clin. Lab. Anal. 2018; 32 (5): e22401. DOI: 10.1002/jcla.22401
16. Alizadeh S., Djafarian K., Moradi S., Shab-Bidar S. C667T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene and susceptibility to myocardial infarction: a systematic review and meta-analysis. Int. J. Cardiol. 2016; 217: 99–108. DOI: 10.1016/j. ijcard.2016.04.181
17. Zalavras Ch.G., Giotopoulou S., Dokou E., Mitsis M., Ioannou H.V., Tzolou A. et al. Lack of association between the C677T mutation in the 5,10-methy-lenetetrahydrofolate reductase gene and venous thromboembolism in Northwestern Greece. Int. Angiol. 2002; 21 (3): 268–271.
18. Casas J.P., Hingorani A.D., Bautista L.E., Sharma P. Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. Arch. Neurol. 2004; 61 (11): 1652–1661. DOI: 10.1001/archneur.61.11.1652
19. Nygård O., Nordrehaug J.E., Refsum H., Ueland P.M., Farstad M., Vollset S.E. Plasma homocysteine levels and mortality in patients with coronary artery disease. N. Engl. J. Med. 1997; 24; 337 (4): 230–236. DOI: 10.1056/NEJM199707243370403
20. Stubbs P.J., Al-Obaidi M.K., Conroy R.M., Collinson P.O., Graham I.M., Noble I.M. Effect of plasma homocysteine concentration on early and late events in patients with acute coronary syndromes. Circulation. 2000; 102 (6): 605–610. DOI: 10.1161/01.cir.102.6.605
21. Медведев Д.В., Звягина В.И. Молекулярные механизмы токсического действия гомоцистеина. Кардиологический вестник. 2017; 12(1): 52–57.
22. Bouzidi N., Hassine M., Fodha H., Ben Messaoud M., Maatouk F., Gamra H., Ferchichi S. Association of the methylene-tetrahydrofolate reductase gene rs1801133 C677T variant with serum homocysteine levels, and the severity of coronary artery disease. Sci. Rep. 2020; 10 (1): 10064. DOI: 10.1038/s41598-020-66937-3
23. Akyürek Ö., Akbal E., Güneş F. Increase in the risk of ST elevation myocardial infarction is associated with homocysteine level. Arch. Med. Res. 2014; 45 (6): 501–506. DOI: 10.1016/j.arcmed.2014.08.003
24. Chen C.J., Yang T.C., Chang C., Lu S.C., Chang P.Y. Homocysteine is a bystander for ST-segment elevation myocardial infarction: a case- control study. B.M.C. Cardiovasc. Disord. 2018; 18 (1): 33. DOI: 10.1186/s12872-018-0774-8
25. Lakkakula B.V.K.S. Association between MTHFR 677C>T polymorphism and vascular complications in sickle cell disease: a meta-analysis. Transfus. Clin. Biol. 2019; 26 (4): 284–288. DOI: 10.1016/j.tracli.2019.01.003
26. Luo Z., Lu Z., Muhammad I., Chen Y., Chen Q., Zhang J., Song Y. Associations of the MTHFR rs1801133 polymorphism with coronary artery disease and lipid levels: a systematic review and updated meta-analysis. Lipids. Health. Dis. 2018; 17 (1): 191. DOI: 10.1186/s12944- 018-0837-y
27. Morita H., Taguchi J., Kurihara H., Kitaoka M., Kaneda H., Kurihara Y. et al. Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease. Circulation. 1997; 95 (8): 2032–2036. DOI: 10.1161/01.cir.95.8.2032
28. Kluijtmans L.A., Whitehead A.S. Methylenetetrahydro-folate reductase genotypes and predisposition to athero-thrombotic disease; evidence that all three MTHFR C677T genotypes confer different levels of risk. Eur. Heart. J. 2001; 22 (4): 294–299. DOI: 10.1053/euhj.2000.2239
29. Wald D.S., Morris J.K., Wald N.J. Reconciling the evidence on serum homocysteine and ischaemic heart disease: a meta-analysis. PLoS. One. 2011; 6 (2): e16473. DOI: 10.1371/journal.pone.0016473
30. Raina J.K., Sharma M., Panjaliya R.K., Dogra V., Bakaya A., Kumar P. Association of ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with Coronary Artery Disease (CAD). B.M.C. Cardiovasc. Disord. 2020; 20 (1): 340. DOI: 10.1186/s12872-020-01618-7
31. Raina J.K., Sharma M., Panjaliya R.K., Bhagat M., Sharma R., Bakaya A., Kumar P. Methylenetetra-hydrofolate reductase C677T and methionine synthase A2756G gene polymorphisms and associated risk of cardiovascular diseases: a study from Jammu region. Indian. Heart. J. 2016; 68 (3): 421–430. DOI: 10.1016/j.ihj.2016.02.009
32. Abd El-Aziz T.A., Mohamed R.H. Influence of MTHFR C677T gene polymorphism in the development of cardiovascular disease in Egyptian patients with rheuma-toid arthritis. Gene. 2017; 610: 127–132. DOI: 10.1016/j.gene.2017.02.015
33. Li Y.Y. Methylenetetrahydrofolate reductase C677T gene polymorphism and coronary artery disease in a Chinese Han population: a meta- analysis. Metabolism. 2012; 61 (6): 846–852. DOI: 10.1016/j.metabol.2011.10.013
34. Mallhi T.H., Shahid M., Rehman K., Khan Y.H., Alana-zi A.S., Alotaibi N.H. et al. Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor. Metabolites. 2023; 13 (2): 251. DOI: 10.3390/metabo13020251
35. Samii A., Aslani S., Imani D., Razi B., Samaneh Tabaee S., Jamialahmadi T., Sahebkar A. MTHFR gene polymorp-hisms and susceptibility to myocardial infarction: evidence from meta-analysis and trial sequential analysis. Int. J. Cardiol. Heart Vasc. 2023; 49: 101293. DOI: 10.1016/j.ijcha.2023.101293
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1. McCully K.S. Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. Am. J. Pathol. 1969; 56 (1): 111–128.
2. Sultanova O.E., Chernysheva E.N., Kokhanov A.V., Sevostyanova I.V. Evolution of the trend of homocysteine research in cardiological practice. Modern Problems of Science and Education. 2020; 4 (in Russ.). DOI: 10.17513/spno.29937
3. Della Corte V., Todaro F., Cataldi M., Tuttolomondo A. atherosclerosis and its related laboratory biomarkers. Int. J. Mol. Sci. 2023; 24 (21): 15546. DOI: 10.3390/ijms242115546
4. Valeriani E., Pastori D., Astorri G., Porfidia A., Meni-chelli D., Pignatelli P. Factor V Leiden, prothrombin, MTHFR, and PAI-1 gene polymorphisms in patients with arterial disease: a comprehensive systematic-review and meta-analysis. Thromb. Res. 2023; 230: 74–83. DOI: 10.1016/j.thromres.2023.08.006
5. Guo J., Gao Y., Ahmed M., Dong P., Gao Y., Gong Z. et al. Serum homocysteine level predictive capability for severity of restenosis post percutaneous coronary intervention. Front. Pharmacol. 2022; 13: 816059. DOI: 10.3389/fphar.2022.816059
6. McCully K.S. Hyperhomocysteinemia and arteriosclerosis: historical perspectives. Clin. Chem. Lab. Med. 2005; 43 (10): 980–986. DOI: 10.1515/CCLM.2005.172
7. Froese D.S., Huemer M., Suormala T., Burda P., Coelho D., Guéant J.L. et al. mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Hum. Mutat. 2016; 37 (5): 427–438. DOI: 10.1002/humu.22970
8. Mudd S.H., Uhlendorf B.W., Freeman J.M., Finkelstein J.D., Shih V.E. Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity. Biochem. Biophys. Res. Commun. 1972; 46 (2): 905–912. DOI: 10.1016/s0006-291x(72)80227-4
9. Kang S.S., Wong P.W., Zhou J.M., Sora J., Lessick M., Ruggie N., Grcevich G. Thermolabile methylenetetra-hydrofolate reductase in patients with coronary artery disease. Metabolism. 1988; 37 (7): 611–613. DOI: 10.1016/0026-0495(88)90076-5
10. Shiran A., Remer E., Asmer I., Karkabi B., Zittan E., Cassel A. et al. Association of Vitamin B12 Deficiency with Homozygosity of the TT MTHFR C677T genotype, hyperhomocysteinemia, and endothelial cell dysfunction. Isr. Med. Assoc. J. 2015; 17 (5): 288–292.
11. Raghubeer S., Matsha T.E. Methylenetetrahydrofolate (MTHFR), the One-Carbon Cycle, and Cardiovascular Risks. Nutrients. 2021; 13 (12): 4562. DOI: 10.3390/nu13124562
12. Tanaka T., Scheet P., Giusti B., Bandinelli S., Piras M.G., Usala G. et al. Genomewide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am. J. Hum. Genet. 2009; 84 (4): 477–482. DOI: 10.1016/j.ajhg.2009.02.011
13. Wilcken B. Medicine. Newborn screening: gaps in the evidence. Science. 2013; 342 (6155): 197–198. DOI: 10.1126/science.1243944
14. Dedoussis G.V., Panagiotakos D.B., Pitsavos C., Chrysohoou C., Skoumas J., Choumerianou D., Stefanadis C. ATTICA Study Group. An association between the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and inflammation markers related to cardiovascular disease. Int. J. Cardiol. 2005; 100 (3): 409–414. DOI: 10.1016/j.ijcard.2004.08.038
15. Khalighi K., Cheng G., Mirabbasi S., Khalighi B., Wu Y., Fan W. Opposite impact of Methylene tetra-hydrofolate reductase C677T and Methylene tetrahyd-rofolate reductase A1298C gene polymorphisms on systemic inflammation. J. Clin. Lab. Anal. 2018; 32 (5): e22401. DOI: 10.1002/jcla.22401
16. Alizadeh S., Djafarian K., Moradi S., Shab-Bidar S. C667T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene and susceptibility to myocardial infarction: a systematic review and meta-analysis. Int. J. Cardiol. 2016; 217: 99–108. DOI: 10.1016/j. ijcard.2016.04.181
17. Zalavras Ch.G., Giotopoulou S., Dokou E., Mitsis M., Ioannou H.V., Tzolou A. et al. Lack of association between the C677T mutation in the 5,10-methy-lenetetrahydrofolate reductase gene and venous thromboembolism in Northwestern Greece. Int. Angiol. 2002; 21 (3): 268–271.
18. Casas J.P., Hingorani A.D., Bautista L.E., Sharma P. Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. Arch. Neurol. 2004; 61 (11): 1652–1661. DOI: 10.1001/archneur.61.11.1652
19. Nygård O., Nordrehaug J.E., Refsum H., Ueland P.M., Farstad M., Vollset S.E. Plasma homocysteine levels and mortality in patients with coronary artery disease. N. Engl. J. Med. 1997; 24; 337 (4): 230–236. DOI: 10.1056/NEJM199707243370403
20. Stubbs P.J., Al-Obaidi M.K., Conroy R.M., Collinson P.O., Graham I.M., Noble I.M. Effect of plasma homocysteine concentration on early and late events in patients with acute coronary syndromes. Circulation. 2000; 102 (6): 605–610. DOI: 10.1161/01.cir.102.6.605
21. Medvedev D.V., Zvyagina V.I. Molecular mechanisms of homocysteine’s toxic action. Russian Cardiology Bulletin. 2017; 12 (1): 52–57 (in Russ.).
22. Bouzidi N., Hassine M., Fodha H., Ben Messaoud M., Maatouk F., Gamra H., Ferchichi S. Association of the methylene-tetrahydrofolate reductase gene rs1801133 C677T variant with serum homocysteine levels, and the severity of coronary artery disease. Sci. Rep. 2020; 10 (1): 10064. DOI: 10.1038/s41598-020-66937-3
23. Akyürek Ö., Akbal E., Güneş F. Increase in the risk of ST elevation myocardial infarction is associated with homocysteine level. Arch. Med. Res. 2014; 45 (6): 501–506. DOI: 10.1016/j.arcmed.2014.08.003
24. Chen C.J., Yang T.C., Chang C., Lu S.C., Chang P.Y. Homocysteine is a bystander for ST-segment elevation myocardial infarction: a case- control study. B.M.C. Cardiovasc. Disord. 2018; 18 (1): 33. DOI: 10.1186/s12872-018-0774-8
25. Lakkakula B.V.K.S. Association between MTHFR 677C>T polymorphism and vascular complications in sickle cell disease: a meta-analysis. Transfus. Clin. Biol. 2019; 26 (4): 284–288. DOI: 10.1016/j.tracli.2019.01.003
26. Luo Z., Lu Z., Muhammad I., Chen Y., Chen Q., Zhang J., Song Y. Associations of the MTHFR rs1801133 polymorphism with coronary artery disease and lipid levels: a systematic review and updated meta-analysis. Lipids. Health. Dis. 2018; 17 (1): 191. DOI: 10.1186/s12944- 018-0837-y
27. Morita H., Taguchi J., Kurihara H., Kitaoka M., Kaneda H., Kurihara Y. et al. Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease. Circulation. 1997; 95 (8): 2032–2036. DOI: 10.1161/01.cir.95.8.2032
28. Kluijtmans L.A., Whitehead A.S. Methylenetetrahydro-folate reductase genotypes and predisposition to athero-thrombotic disease; evidence that all three MTHFR C677T genotypes confer different levels of risk. Eur. Heart. J. 2001; 22 (4): 294–299. DOI: 10.1053/euhj.2000.2239
29. Wald D.S., Morris J.K., Wald N.J. Reconciling the evidence on serum homocysteine and ischaemic heart disease: a meta-analysis. PLoS. One. 2011; 6 (2): e16473. DOI: 10.1371/journal.pone.0016473
30. Raina J.K., Sharma M., Panjaliya R.K., Dogra V., Bakaya A., Kumar P. Association of ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with Coronary Artery Disease (CAD). B.M.C. Cardiovasc. Disord. 2020; 20 (1): 340. DOI: 10.1186/s12872-020-01618-7
31. Raina J.K., Sharma M., Panjaliya R.K., Bhagat M., Sharma R., Bakaya A., Kumar P. Methylenetetra-hydrofolate reductase C677T and methionine synthase A2756G gene polymorphisms and associated risk of cardiovascular diseases: a study from Jammu region. Indian. Heart. J. 2016; 68 (3): 421–430. DOI: 10.1016/j.ihj.2016.02.009
32. Abd El-Aziz T.A., Mohamed R.H. Influence of MTHFR C677T gene polymorphism in the development of cardiovascular disease in Egyptian patients with rheuma-toid arthritis. Gene. 2017; 610: 127–132. DOI: 10.1016/j.gene.2017.02.015
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Об авторах

• Бузиашвили Юрий Иосифович, д-р мед. наук, профессор, академик РАН, руководитель клинико-диагностического отделения; ORCID
• Кокшенева Инна Валериевна, д-р мед. наук, ст. науч. сотр. клинико-диагностического отделения; ORCID
• Турахонов Темур Курбаналиевич, канд. мед. наук, врач-кардиолог клинико-диагностического отделения; ORCID
• Бузиашвили Виктория Юрьевна, канд. мед. наук, мл. науч. сотр. клинико-диагностического отделения; ORCID