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Genotyping of MTHFR and Apo E, homocysteine levels and cardiovascular disease

Atherosclerosis is most common arterial disease and the leading cause of cardiac disease (CAD). One of the candidate genes for the genesis of atherosclerosis is apolipoprotein E (apo E), with a recently identified indicator, methylenetetrahydrololate reductase (MTHFR). MTHFR is one of the major regulatory enzymes in the metabolism or homocysteine (Hcy), a recently identified risk factor for atherosclerosis. The aim of the study is to evaluate importance of genetic (apo E and MTHFR) and biochemical (Hcy) markers in patients with CAD. Genotypes were determined by PCR-RFLP method and Hcy level by EIA in samples of healthy controls (n=60) and angiographically-confirmed patients with CAD (, n=33). In CAD group a significant different apo E genotype (p<0.05), but no significant difference in MTHFR genotype distribution compared to the control was found. In the group of patients and controls no TT genotype was found. The odds ratio for heterozygous apo E 3/4 genotype was 4.13 (95% CI 1.25-13.61). No significant difference of Hcy leveles (p>0.05) was found. Hyperhomocysteinemia (>15 ƒÝM) was determined in 5% of controls and 7% of patients. Association of MTHFR with apo E genotype as well as MTHFR genotype and Hcy level was not found. The preliminary results obtained in this study revealed an association of apo E, but no MTHFR genotype and Hcy level with CAD. Additional studies in larger patient groups are needed to confirm these observations.

MTHFR; Apo E; homocysteine; cardiovascular disease

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