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Lack of association of methylenetetrahydrofolate reductase 677C>T mutation with coronary artery disease in a Pakistani population | OMICS International | Abstract
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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Research Article

Lack of association of methylenetetrahydrofolate reductase 677C>T mutation with coronary artery disease in a Pakistani population

M Perwaiz Iqbal1*, Tasneem Fatima1, Siddiqa Parveen1, Farzana A Yousuf1, Majid Shafiq1, Naseema Mehboobali1, Abrar H Khan1, Iqbal Azam2 and Philippe M Frossard1

1Department of Biological and Biomedical Sciences, Aga Khan University, Stadium Road, P.O. Box-3500, Karachi- 74800, Pakistan.

2Department of Community Health Sciences, Aga Khan University, Stadium Road, P.O. Box-3500, Karachi-74800, Pakistan

*Corresponding Author:
M. Perwaiz Iqbal
Tel: +92 21 4864463
Fax: +92 21 4934294
Email: [email protected]

Received date: 18 February 2005; Revised date: 29 April 2005; Accepted date: 29 April 2005, Available online 28 July 2005; Published date: 19 August 2005

© Copyright: M Perwaiz Iqbal et al


Pakistanis belong to the South Asian population which has the highest known rate of coronary artery disease. Folic acid deficiency also appears to be highly prevalent in this population. Methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism decreases the activity of this enzyme and can be associated with mild to moderate hyperhomocysteinemia in homozygotes, particularly when there is folic acid deficiency, as well as with coronary artery disease. To assess the value of genotyping the MTHFR 677C>T dimorphism, we carried out a case-control study of dimorphism 677C>T for putative association with myocardial infarction (MI) among Pakistani nationals. We investigated a sample population of 622 Pakistanis consisting of 225 controls and 397 patients with clinical diagnosis of acute MI (AMI). MTHFR C677T alleles were determined by assays based on polymerase chain reaction and restriction endonuclease analysis. Frequencies of C alleles were 0.87 among controls and 0.86 among AMI patients. The MTHFR 677C>T dimorphism showed no association with MI (2 = 0.25, 1df, P=0.62), serum levels of folate and vitamin B12 and plasma level of vitamin B6. A significant association, however, was found between homozygous 677T genotype and plasma levels of homocysteine. Multivariate analysis of the data showed that in case of log homocysteine, age and MTHFR genotypes were significantly different (P<0.001). In case of B12, smoking and age were found to be statistically significant (P<0.001), while in case of serum folate only smoking was found to be significant (P<0.001). The results indicate that MTHFR 677C>T polymorphism, though associated with homocysteine levels, confers no significant risk of coronary artery disease in the Pakistani population investigated here. We suggest that the higher incidence of AMI in South Asia occurs through mechanisms other than the MTHFR related pathways


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