Coronary Artery Disease Is Related to Methylation Disorders Caused by the c.1286A>C Polymorphism and to Low Serum 5-MTHF and Folic Acid Concentrations-Preliminary Results.

BACKGROUND

Single nucleotide polymorphisms in gene encoding is the key enzyme in the folates pathway, methyltetrahydrofolate reductase (MTHFR), which causes methylation disorders associated with coronary artery disease (CAD). We evaluated associations between methylation disorders caused by gene polymorphisms and the blood folate concentrations (folic acid, 5-MTHF) in CAD patients.

METHODS

Study group: 34 patients with CAD confirmed by invasive coronary angiography (ICA).

CONTROLS

14 patients without CAD symptoms or significant coronary artery stenosis, based on ICA or multislice computed tomography (MSCT) with coronary artery calcification (CAC) scoring. Real-time PCR genotyping was assessed using TaqMan™ probes. Folic acid and 5-MTHF concentrations in blood serum were determined using Liquid Chromatography-Mass Spectrometry (LC-MS).

RESULTS

The c.[1286A>C];[1286A>C] polymorphism occurred significantly more often in (CAD) patients compared to the (CAD) cohort and to the selected general European "CEU_GENO_PANEL" population sample. The concentration of 5-MTHF and folic acid in subgroups of CAD patients with methylation disorders categorized by genotypes and CAD presence (CAD) was always lower in CAD subgroups compared to non-CAD individuals (CAD).

CONCLUSIONS

Further studies on a larger scale are needed to implicate the homozygous c.1286A>C variant as CAD genetic marker and the 5-MTHF as CAD biomarker. Identification of high CAD risk using genetic and phenotypic tests can contribute to personalized therapy using an active (methylated) form of folic acid (5-MTHF) in CAD patients with polymorphisms.