Identification of six methylenetetrahydrofolate reductase (MTHFR) genotypes resulting from common polymorphisms: impact on plasma homocysteine levels and development of coronary artery disease

摘要: Abstract Although three common MTHFR polymorphisms (C 677 T, A 1298 C, T 1317 C) have been reported, only polymorphism C has investigated intensively as a risk factor for coronary artery disease (CAD). We frequencies, allelic associations and the effect of resulting genotypes on total plasma homocysteine (tHcy) levels in case-control study with 1000 angiographically confirmed Middle-European CAD patients matched controls. Three out four theoretically possible haplotypes were detected: *1 (677C, 1298A), *2 (677T, *3 1298C). The frequencies : 36.4 34.4%; 30.8 32.3%; 32.8 33.3%, cases controls, respectively. Only one patient was heterozygous 1317C. None six showed significant influence tHcy levels. Moreover, there no association or severity early manifestation. In subgroup presenting acute syndromes, *2/*3 *3/*3 surprisingly underrepresented (relative , 0.40; 95% confidence interval 0.20–0.79, P =0.009). conclude from our genotype-based analysis that, this well-fed population, observed variants gene chronic process development.