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АНАЛІЗ АСОЦІАЦІЇ С677Т ПОЛІМОРФІЗМУ ГЕНА МЕТИЛЕНТЕТРАГІДРОФОЛАТРЕДУКТАЗИ (MTHFR) З РОЗВИТКОМ СИНДРОМУ ДІАБЕТИЧНОЇ СТОПИ У ПАЦІЄНТІВ З ЦУКРОВИМ ДІАБЕТОМ 2 ТИПУ

Автор: О. В. Русанов, Я. Д. Чумаченко

Сторінки: 45–51

Анотація

         

У роботі представлено результати визначення С677Т поліморфізму гена MTHFR у 154 хворих на цукровий діабет 2 типу, ускладнений синдромом діабетичної стопи (СДС) та 67 осіб контрольної групи. Розподіл гомозигот за основним алелем (С/С), гетерозигот (С/Т) та гомозигот за мінорним алелем (Т/Т) у хворих на СДС становив – 39,0 %, 46,8 % та 14,3 % , а серед практично здорових осіб – 46 %, 48,4 %, 5,6 % відповідно (Р = 0,056 за χ 2-критерієм Пірсона). У гомозигот Т/Т ризик виникнення СДС більший, ніж у носіїв основного алеля (С/С і С/Т) (OR = 2,79; Р = 0,02).

Ключові слова: синдром діабетичної стопи, цукровий діабет, ендотеліальна дисфункція, поліморфізм генів, метилентетрафолатредуктаза.

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Список літератури

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  2. Yehuda H, Zachary T. Bloomgarden, et al. Updated Clinical Recommendations on diagnostics and treatment of diabetes mellitus American Association of Clinical Endocrinology (AACE) and American College of Endocrinology (ACE), 2015. Diabetes. Adiposity. Metabolic syndrome 2015, 4: 17–21.
  3. Liapis MO, Herasimchuk PO. [The syndrome of diabetics foot] Ternopil: Ukrmedkniha, 2001. 276 p.
  4. Das SK: Genetic epidemiology of adult onset type 2 diabetes in asian indian population: past, present and future. Int J Hum Genet 2006, 6(1):1–13.
  5. Rebecca LP, Mary M et al Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes. Cardiovascular Diabetology 2005, 4–17
  6. Pollex RL, Mamakeesick M, et al. Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes. Cardiovasc Diabetol 2005;4–17. [PubMed: 16274479]
  7. Russo GT, Di Benedetto A, et al. Mild hyperhomocysteinemia, C677T polymorphism on methylenetetrahydro-folate reductase gene and the risk of macroangiopathy in type 2 diabetes: a prospective study. Acta Diabetol. Nov 25;2009
  8. Ciccarone E, Di Castelnuovo A, et al. Homocysteine levels are associated with the severity of peripheral arterial disease in Type 2 diabetic patients.; GENDIABET Investigators. Volume 48, Issue 4, Pages 897–904.e1
  9. Surovi H, Brian H. Annex. Biomarkers and Genetics in Peripheral Artery Disease. Clin Chem. 2017 Jan; 63(1): 236–244.
  10. Goyette P, Pai A, et al. Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mamm Genome. 1998 Aug;9(8):652–6.
  11. Sibani S, Christensen B. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat. 2000;15(3):280–7.
  12. Frosst P, Blom HJ, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995 May;10(1):111–3.
  13. Fetisova IN, Dobrolubov AS, et al. Polymorphism of genes of folate metabolism and human disease. Vestnik novykh meditsinskikh tekhnologiy 2007; 1: 23–28.
  14. Isordia-Salas I, Trejo-Aguilar A, , et al. C677T polymorphism of the 5,10 MTHFR gene in young Mexican subjects with ST-elevation myocardial infarction. Arch Med Res. 2010 May;41(4):246–50.
  15. Abdullah A, Ahmad AS, et al. Association of MTHFR C677T and A1298C gene polymorphisms with hypertension. International Journal of Health Sciences, Qassim University. 2012. – Vol. 6(1).– P. 1433.
  16. Poduri A, Mukherjee D, et al. MTHFR A1298C polymorphism is associated with cardiovascular risk in end stage renal disease in North Indians. Molecular and Cellular Biochemistry 2007, 308(1–2):43–50.
  17. Almawi WY, Khan A, et al. Case-control Study of methylenetetrahydrofolate reductase mutations and hyperhomocysteinemia and risk of stroke. J Stroke Cerebrovasc Dis. 2009 Sep-Oct;18(5):407–8.
  18. Fernández-Peralta AM, Daimiel L, et al. Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy. Int J Colorectal Dis. 2010 Feb;25(2):141-51.
  19. Fedota OM, Roshcheniuk LV, et al. Analysis of association of a gene of epidermal differentiation complex with dermatologic ang gynecologist diseases. Health Of Woman.2015.1(97):192–194.
  20. Lissowska J, Gaudet MM, et al. Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk: a population-based case-control study and meta-analyses. Int J Cancer. 2007 Jun 15;120(12):2696–703.
  21. Zan T, Lei W, et al. The 677C>T (rs1801133) Polymorphism in the MTHFR Gene Contributes to Colorectal Cancer Risk: A Meta-Analysis Based on 71 Research Studies. PLoS One. 2013; 8(2): e55332. Published online 2013 Feb 20. doi: 10.1371/journal.pone.0055332.
  22. Strain JJ, Dowey L, et al. B-vitamins, homocysteine metabolism and CVD. Proc Nutr Soc. 2004 Nov;63(4):597–603.
  23. Alghashama A, Ahmad A Settina et al. Association of MTHFR C677T and A1298C gene polymorphisms with hypertension. International Journal of Health Sciences, Qassim University. 2012. – Vol. 6(1).– P. 1433.
  24. Serbulent Y, Nevin K, et al. Association of MTHFR gene C677T mutation with diabetic peripheral neuropathy and diabetic retinopathy. Mol Vis. 2013; 19: 1626–1630.
  25. Vasilieva YI, Bushueva OY, et al. Smoking as a precipitating factor in the development of diabetic angiopathy of lower extremities in men with methylenetetrahydrofolatereductase 677TT genotype. Klin. med. 2015;93(7) p 45–49.

1.       Shlapak IP, Galyshko OA. [Diabetes. A view from the position of an anesthetist] Kiev: Kniga plus, 2010.160p.

2.       Yehuda H, Zachary T. Bloomgarden, et al. Updated Clinical Recommendations on diagnostics and treatment of diabetes mellitus American Association of Clinical Endocrinology (AACE) and American College of Endocrinology (ACE), 2015. Diabetes. Adiposity. Metabolic syndrome 2015, 4: 17–21.

3.       Liapis MO, Herasimchuk PO. [The syndrome of diabetics foot] Ternopil: Ukrmedkniha, 2001. 276 p.

4.       Das SK: Genetic epidemiology of adult onset type 2 diabetes in asian indian population: past, present and future. Int J Hum Genet 2006, 6(1):1–13.

5.       Rebecca LP, Mary M et al Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes. Cardiovascular Diabetology 2005, 4–17

6.       Pollex RL, Mamakeesick M, et al. Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes. Cardiovasc Diabetol 2005;4–17. [PubMed: 16274479]

7.       Russo GT, Di Benedetto A, et al. Mild hyperhomocysteinemia, C677T polymorphism on methylenetetrahydro-folate reductase gene and the risk of macroangiopathy in type 2 diabetes: a prospective study. Acta Diabetol. Nov 25;2009

8.       Ciccarone E, Di Castelnuovo A, et al. Homocysteine levels are associated with the severity of peripheral arterial disease in Type 2 diabetic patients.; GENDIABET Investigators. Volume 48, Issue 4, Pages 897–904.e1

9.       Surovi H, Brian H. Annex. Biomarkers and Genetics in Peripheral Artery Disease. Clin Chem. 2017 Jan; 63(1): 236–244.

10.   Goyette P, Pai A, et al. Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mamm Genome. 1998 Aug;9(8):652–6.

11.   Sibani S, Christensen B. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat. 2000;15(3):280–7.

12.   Frosst P, Blom HJ, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995 May;10(1):111–3.

13.   Fetisova IN, Dobrolubov AS, et al. Polymorphism of genes of folate metabolism and human disease. Vestnik novykh meditsinskikh tekhnologiy 2007; 1: 23–28.

14.   Isordia-Salas I, Trejo-Aguilar A, , et al. C677T polymorphism of the 5,10 MTHFR gene in young Mexican subjects with ST-elevation myocardial infarction. Arch Med Res. 2010 May;41(4):246–50.

15.   Abdullah A, Ahmad AS, et al. Association of MTHFR C677T and A1298C gene polymorphisms with hypertension. International Journal of Health Sciences, Qassim University. 2012. – Vol. 6(1).– P. 1433.

16.   Poduri A, Mukherjee D, et al. MTHFR A1298C polymorphism is associated with cardiovascular risk in end stage renal disease in North Indians. Molecular and Cellular Biochemistry 2007, 308(1–2):43–50.

17.   Almawi WY, Khan A, et al. Case-control Study of methylenetetrahydrofolate reductase mutations and hyperhomocysteinemia and risk of stroke. J Stroke Cerebrovasc Dis. 2009 Sep-Oct;18(5):407–8.

18.   Fernández-Peralta AM, Daimiel L, et al. Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy. Int J Colorectal Dis. 2010 Feb;25(2):141-51.

19.   Fedota OM, Roshcheniuk LV, et al. Analysis of association of a gene of epidermal differentiation complex with dermatologic ang gynecologist diseases. Health Of Woman.2015.1(97):192–194.

20.   Lissowska J, Gaudet MM, et al. Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk: a population-based case-control study and meta-analyses. Int J Cancer. 2007 Jun 15;120(12):2696–703.

21.   Zan T, Lei W, et al. The 677C>T (rs1801133) Polymorphism in the MTHFR Gene Contributes to Colorectal Cancer Risk: A Meta-Analysis Based on 71 Research Studies. PLoS One. 2013; 8(2): e55332. Published online 2013 Feb 20. doi: 10.1371/journal.pone.0055332.

22.   Strain JJ, Dowey L, et al. B-vitamins, homocysteine metabolism and CVD. Proc Nutr Soc. 2004 Nov;63(4):597–603.

23.   Alghashama A, Ahmad A Settina et al. Association of MTHFR C677T and A1298C gene polymorphisms with hypertension. International Journal of Health Sciences, Qassim University. 2012. – Vol. 6(1).– P. 1433.

24.   Serbulent Y, Nevin K, et al. Association of MTHFR gene C677T mutation with diabetic peripheral neuropathy and diabetic retinopathy. Mol Vis. 2013; 19: 1626–1630.

25.   Vasilieva YI, Bushueva OY, et al. Smoking as a precipitating factor in the development of diabetic angiopathy of lower extremities in men with methylenetetrahydrofolatereductase 677TT genotype. Klin. med. 2015;93(7) p 45–49.