High
prevalence of premature
coronary heart disease in Pakistanis compared to other
populations points towards the
genetic predisposition of this
population to develop this
disease. Since no investigations have been carried out in
Pakistan to study the relationship of polymorphisms in
genes involved in
homocysteine cycle, the objective of the present study was to find out if there is any
association of
methylenetetrahydrofolate reductase [MTHFR] C677T, A1298C;
methionine synthase [MS] A2756G;
cystathionine-beta-synthase [CBS] 844ins68, G919A polymorphisms with premature acute
myocardial infarction [AMI] in a
population of Pakistani
patients with this
disease. In a
cross-sectional study,
DNA samples of 143 AMI
patients [age <45 years] and 153 healthy controls were genotyped for the above mentioned polymorphisms using
PCR-
RFLP methods.
Plasma/
serum samples of both
patients and healthy controls were screened for
homocysteine,
folate and
vitamin B12. One way
ANOVA and chi-squared test were used for
analysis of data. Mean
plasma homocysteine levels in premature AMI
patients and healthy controls were found to be 23 +/- 17.2 and 23 +/- 13.4 micro mol/l, respectively which are higher than the upper normal limit of this
biomarker [15micro mol/l]. MTHFR 677 CT
genotype in healthy controls and MTHFR 677 TT
genotype in AMI
patients were found to have significantly increased levels of
plasma homocysteine [p value <0.05], while all other polymorphisms did not show any significant difference in mean levels of
homocysteine between AMI
patients and healthy controls. Moreover, no
association was observed between MTHFR C677T, A1298C; MS A2756C; CBS844ins68 polymorphisms and premature AMI in this
population. This indicates that common polymorphisms in MTHFR, MS and CBS
genes have no
role in premature AMI in Pakistani
population