Skip to main content
SpringerLink
Log in

Polymorphism (C677T) in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene: A preliminary study on north Indian men

  • Published:
Indian Journal of Clinical Biochemistry Aims and scope Submit manuscript

Abstract

An elevated level of plasma homocysteine, sulfur containing amino acid generated through demethylation of methionine has been widely accepted as a risk factor for cardiovascular disease (CVD). The increase can result from genetic and/or nutrient related disturbances in the remethylation or transsulfuration pathways for homocysteine metabolism. A common mutation (C677T) in the gene encoding for the enzyme 5, 10-methylenetetrahydrofolate reductase (MTHFR) or deficiency of the B vitamins namely folic acid, B12, B6 can lead to hyperhomocysteinemia.

In the present study, we have investigated the incidence of the (C677T) MTHFR polymorphism in the North Indian males. 141 angiographically proven coronary artery disease (CAD) patients and 55 age and sex matched healthy volunteers were examined for the association between MTHFR gene polymorphism and CAD. The MTHFR genotyping was performed using polymerase chain reaction (PCR) followed by restriction-isotyping with Hinf 1 endonuclease. A trend for higher ‘T’ allele frequency (0.19) was observed in patients than in controls (0.16). However no significant association was found between C677T mutation and CAD severity. The lack of statistical significance could be due to the small sample size studied. Hence a larger study including various ethnic groups is warranted.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Langman, L.J. and Cole, D.E.C. (1990) Homocysteine: Cholesterol of the 90s. Clinica Chimica Acta 286, 63–80.

    Article  Google Scholar 

  2. Pandey, R., Gupta, S., Lal, H., Mehta, H.C. and Aggarwal, S.K. (2000) Hyperhomocysteinemia and cardiovascular disease. The nutritional perspectives. Indian J. Clin. Biochem. 15 (Suppl.), 20–30.

    Article  Google Scholar 

  3. DeVigneaud, V.E. (1952) Trail of research in sulfur chemistry metabolism and related fields. Ithaca New York, Cornell University Press.

    Google Scholar 

  4. Rees, M.M., Rodgers, G.M. (1993) Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis. Throm. Res. 71, 337–359.

    Article  CAS  Google Scholar 

  5. Gerristen, T. and Waisman, H.A. (1964) Homocystinuria an error in the metabolism of methionine. Pediatrics 33, 413–420.

    Google Scholar 

  6. Ma, J., Stampfer, M.J., Hennekens, C.H., Frost, P., Selhub, J., Horsford, J., Malinow, M.R., Willett, W.C. and Rozen, R. (1996) Methylenetetrahydrofolate reductase polymorphism, plasma foliate, homocysteine and risk of myocardial infarction in US physicians. Circulation 94, 2410–2416.

    PubMed  CAS  Google Scholar 

  7. Carson, N.A.J. and Neil, D.W. (1962) Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch. Dis. Child. 37, 505–513.

    Article  PubMed  CAS  Google Scholar 

  8. McCully, K.S. (1969) Vascular pathology of homocysteinemia, implication for the pathogenesis of arteriosclerosis. Am. J. Pathol. 56, 111–128.

    PubMed  CAS  Google Scholar 

  9. Jacobsen, D.W. (1998) Homocysteine and vitamins in cardiovascular disease. Clin. Chem. 44, 1833–1843.

    PubMed  CAS  Google Scholar 

  10. Ueland, P.M. and Refsum, H. (1989) Plasma homocysteine a risk factor for vascular disease: Plasma levels in health, disease and drug therapy. J. Lab. Clin. Med. 114, 473–501.

    PubMed  CAS  Google Scholar 

  11. Goyettte, P., Pai, A., Milos, R., Frost, P., Tran, P., Chen, Z., Chan, M. and Rozen, R. (1998) Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mammalian Genome 9, 652–656.

    Article  Google Scholar 

  12. Nygard, O., Vollset, S.E., Refsein, H., Stensvold, I., Tverdal, A., Nordrehaug, J.E., Ueland, M. and Kvale, G. (1995) Total plasma homocysteine and cardiovascular risk profile. The Hordaland homocysteine study. JAMA. 274, 1526–1533.

    Article  PubMed  CAS  Google Scholar 

  13. Nygard, O., Refsum, H., Ueland, P.M., Stensvold, I., Nordrehaug, J.E. and Kvale, G. (1997) Coffee consumption and plasma total homocysteine: the Hordaland homocysteine study. Am. J. Clin. Nutr. 65, 136–143.

    PubMed  CAS  Google Scholar 

  14. Parzer, S. and Mannhalter, C. (1991) A rapid method for the isolation of genomic DNA from citrated whole blood. Biochem. J. 273, 229–231.

    PubMed  CAS  Google Scholar 

  15. Goyette, P., Frosst, P., Rosenbaltt, D.S. and Rozen, R. (1995) Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am. J. Hum. Genet. 56, 1052–1059.

    PubMed  CAS  Google Scholar 

  16. Bernard, P.S., Lay, M.J. and Wittwer, C.T. (1998) Integrated amplification and detection of the C677T point mutation in the methylenetetrahydrofolate reductase gene by flourescence resonance energy transfer and profile melting curves. Anal. Biochem. 255, 101–107.

    Article  PubMed  CAS  Google Scholar 

  17. Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J.H., Heijer, M.D., Kluitmans, L.A.J., Heuvel, L.P. and Rozen, R.A. (1995) Candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Hum. Gen. 10, 111–113.

    CAS  Google Scholar 

  18. Chacko, K.A. (1998) Plasma Homocysteine levels in patients with Coronary Heart Disease. Indian Heart J. 50, 295–299.

    PubMed  CAS  Google Scholar 

  19. Reinhardt, D., Sigusch, H.H., Vogt, S.F., Farker, K., Muller, S. and Hoffman, A. (1998) Absence of methylenetetrahydrofolate reductase gene and the risk of coronary artery disease. Eur. J. Clin. Invest. 28, 20–23.

    Article  PubMed  CAS  Google Scholar 

  20. Lalouschek, W., Aull, S., Serles, W., Schnider, P., Mannhalter, T.L., Deceker, L. and Zeiler, K. (1999) Genetic and non-genetic factors influencing plasma homocysteine levels in patients with ischemic cerebrovascular disease and in healthy control subjects. J. Lab. Clin. Med. 133, 575–581.

    Article  PubMed  CAS  Google Scholar 

  21. McAndrew, E., Brandt, J.T., Pearl, D.K. and Prior, T.W. (1996) The incidence of the gene for thermolabile methylene tetrahydrofolate reductase in African Americans. Thromb. Res. 83, 195–198.

    Article  PubMed  CAS  Google Scholar 

  22. Stevenson, R.E., Schwartz, C.E., Du, Y.Z. and Adams, M.J. (1997) Differences in methylene tetrahydrofolate reductase genotypes frequencies, between whites and blacks. Am. J. Hum. Gen. 60, 229–230.

    CAS  Google Scholar 

  23. Morita, H., Taguchi, J., Kurihara, H., Kitaoka, M., Kaneda, H., Kurilara, Y., Maemura, K., Shindo, T., Minamino, T., Ohno, M., Yamaoki, K., Ogasawara, K., Aizawa, T., Suzuki, S. and Yazaki, Y. (1997) Gene polymorphism of 5,10-methylenetetrahydrofolate reductase as a coronary risk factor. J. Cardiol. 29, 309–315.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Cardiology, Cardio-Thoracic & Neuro-Sciences Center, All India Institute of Medical Sciences, Ansari Nagar, 110029, New Delhi

    Vasisht S., Gulati R., Narang R., Srivastava N., Srivastava L. M. & Manchanda S. C.

  2. Institute of Human Genetics, Hamburg, Germany

    Agarwal D. P.

Authors
  1. Vasisht S.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Gulati R.
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Narang R.
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Srivastava N.
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Srivastava L. M.
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Manchanda S. C.
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Agarwal D. P.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Vasisht S..

Rights and permissions

Reprints and permissions

About this article

Cite this article

Vasisht, S., Gulati, R., Narang, R. et al. Polymorphism (C677T) in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene: A preliminary study on north Indian men. Indian J Clin Biochem 17, 99–107 (2002). https://doi.org/10.1007/BF02867949

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02867949

Key Words

Search

Navigation