medigraphic.com
ISSN 1561-3186 (Electronic)

2019, Number 3

<< Back Next >>

Rev Acta Médica 2019; 20 (3)

Frequency of MTHFR C677T polymorphism in Cuban patients with thrombophilia

Martínez EMT, Casanueva CK, Tamargo BTO, Hernández AB, Gómez LM, García MG

Language: Spanish
References: 28
Page: 1-12
PDF size: 153.99 Kb.


ABSTRACT

Introduction: Hyperhomocysteinemia is associated with an increased risk of thrombotic events. Although its role in the pathogenesis of thrombosis is not yet defined, it is proposed that the heterozygous CT and homozygous TT genotypes of the methylenetetrahydrofolate reductase gene constitute a risk factor for the development of hyperhomocysteinemia. The frequency of MTHFR C677T polymorphism varies markedly in each population.
Objective: To determine the frequency of MTHFR C677T polymorphism in a group of young Cuban adults with a history of at least one thrombotic event.
Methods: A descriptive, cross-sectional study was carried out in a group of 132 patients aged 18-50 years, of both sexes, from the hematology clinic of Hermanos Ameijeiras Clinical-Surgical Hospital. MTHFR C677T polymorphism was detected using the Lightmix® in-vitro diagnostics commercial kit MTHFR C677T.
Results: 67.80% presented the C allele and 32.20% presented the T allele, of which 47.73% were heterozygous and 8.33% were homozygous. Only 43.94% (58) presented the normal CC genotype. No statistically significant association was found regarding gender, skin color and clinical diagnosis.
Conclusions: It was found that the frequency of MTHFR C677T polymorphism is high among Cuban patients with thrombophilia, including women who have usually experienced miscarriage.


REFERENCES

  1. Castañeda Travieso M, Carballo Treto TI, Gómez León M, Torres Yibar W, Cepero LLauger K, González Hernández O. Marcadores de trombosis en pacientes con trombofilia. Rev Cubana Med. 2014;53:14-24.

  2. WHO. World health statistics 2017: Monitoring health for the SDGs, Sustainable Development Goals: World Health Organization 2017.

  3. Cuba MdSPd. Anuario estadistico de Salud 2016. In: estadísticas Dnd, ed. La Habana: MINSAP; 2016.

  4. González-Porras JR, Pérez-López E, Alberca I, Lozano FS. Influencia de la mutación C677T del gen de la metilentetrahidrofolato reductasa en la enfermedad tromboembólica venosa. Angiología. 2010;62:225-31.

  5. Siaw-Cheok L, Gupta ED. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: Epidemiology, metabolism and the associated diseases. European Journal of Medical Genetics 2015;58:1-10.

  6. Goyette P, Summer JRM. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat Genet. 1994:195-200.

  7. Oliveira KC, Verreschi ITN, Sugawara EK, Silva VC, Galera BB, Galerea MC, et al. C677T and A1298C Polymorphisms of MTHFR Gene and Their Relation to Homocysteine Levels in Turner Syndrome. Genet Test Mol Biomarkers. 2012;16:396-400.

  8. Kumar A, Misra S, Hazarika A, Kumar P, Sagar R, Pathak A, et al. Association between methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism and risk of ischemic stroke in North Indian population: A hospital based case-control study. Egyptian Journal of Medical Human Genetics. 2016;17:359-65.

  9. Pan F, Tian J, Zhang Y, Pan Y. Three Genetic Polymorphisms of Homocysteine- Metabolizing Enzymes and Risk of Coronary Heart Disease: Appraisal of a Recent Meta- Analysis. DNA and Cell Biology. 2011;31:135-8.

  10. Leiva B JL, Pons GA, Rencoret PG, et al. Rol de las trombofilias en infertilidad: ¿juegan un rol? Revista Médica Clínica Las Condes 2010;21:424-31.

  11. Semmler A, Moskau S, Lutz H, Meyer P, Linnebank M. Haplotype analysis of the 5,10- methylenetetrahydrofolate reductase (MTHFR) c.1298A>C (E429A) polymorphism. BMC Research Notes 2011;4:439.

  12. Audiffred Jaramillo RI, García Cobián TA, García de Alba García JE, Rubio Arellano ED. Asociación del polimorfismo MTHFR C677T con la predominancia sintomatológica en una muestra de pacientes con esquizofrenia de Jalisco, México. Acta universitaria. 2016;26:56-64.

  13. Roche. High Pure PCR Template Preparation Kit. April 2017.

  14. TIBMOLBIOL. LightMix in-vitro diagnostics kit MTHFR C677T. 2016.

  15. Association WM. Principios éticos para las investigaciones médicas en seres humanos. 2017 ed: World Medical Association Inc; 2017:9.

  16. Paredes EM, Vanegas Y, Moreira MJ. Prevalencia de la mutación C677T del gen de la Metilen Tetrahidrofolato Reductasa en los estudiantes de Medicina de la Facultad de Ciencias Médicas de la Universidad Nacional Autónoma de León, Nicaragua. Revista Clínica de la Escuela de Medicina UCR – HSJD. 2013 3:12-6.

  17. Siller Rodríguez J. Mutación del Gen de la Metilenetetrahidrofolato Reductasa (MTHFR) y Nivel Sérico de Homocisteína (Hcy) en Pacientes Mexicanos Menores de 50 años de Edad con Infarto Agudo de Miocardio -Edición Única [Tesis de maestría]. México: Instituto Tecnológico y de Estudios Superiores de Monterrey; 2007.

  18. Herrera M J, Muñoz AM, Parra S BE. Factores determinantes del estado nutricional del folato y el rol de la variante genética C677T de la enzima metilen tetrahidrofolato reductasa (MTHFR). Rev Chil Nutr. 2016;43.

  19. Parra-Ortega I, Martínez-Arias M, López-Valladares K, Valladares K, Sánchez-Huerta JL, Barrera-Dávila L, et al. Variaciones en los alelos 677 C>T y 1298 A>C en el gen que codifica para la enzima 5,10 metilentetrahidrofolato reductasa (MTHFR) y su efecto en la concentración de homocisteína en mestizos mexicanos. Rev Hematol Mex. 2015;16:115-20.

  20. González-Galofre ZN, Villegas V, Martínez-Agüero M. Determinación del polimorfismo C677T de metilentetrahidrofolato reductasa (MTHFR) en una población piloto de estudiantes de la Universidad del Rosario. Rev Cienc Salud. 2010;8:7-21.

  21. Ramos Molina MA. Prevalencia de factores de riesgo cardiovascular asociados a marcadores genéticos en población andaluza [Tesis Doctoral]. Universidad de Sevilla; 2015.

  22. Eloualid A, Abidi O, Charif M, El Houate B, Benrahma H, Louanjli N, et al. Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility. PLoS ONE. 2012;7.

  23. Alghasham A, Settin AA, Ali A, Dowaidar M, Ismail H. Association of MTHFR C677T and A1298C gene polymorphisms with hypertension. Int J Health Sci (Qassim). 2012 Jan; 6(1): 3-11.

  24. Nan Y, Li H. MTHFR genetic polymorphism increases the risk of preterm delivery. Int J Clin Exp Pathol. 2015;8:7397-402.

  25. Mohamed MA, El Moaty MA, El Kholy AF, Mohamed SA, Ali AI. Thrombophilic Gene Mutations in Women with Repeated Spontaneous Miscarriage. Genet Test Mol Biomarkers. 2010;14:593-7.

  26. Guzmán N, Salazar LA. Frequency of Prothrombotic Risk Factors in Patients with Deep Venous Thrombosis and Controls: Their Implications for Thrombophilia Screening in Chilean Subjects. Genet Test Mol Biomarkers. 2010;14:599-602.

  27. González-Devia J, Mendieta-Zerón H. Hiperhomocisteinemia/homocisteinuria como factor de riesgo cardiovascular en niños y adolescentes. Rev Costarr Cardiol. 2013;15:15-22.

  28. Dagan E, Baruch Y, Fiorilli M, Rozenbaum M, Rosner I, Gershoni-Baruch R. Vascular Behcet and Mutations in Thrombogenic Genes: Methylene Tetrahydrofolate Reductase, Factor V, and Prothrombin Genet Test Mol Biomarkers. 2011;16:30-5.




2020     |     www.medigraphic.com