title: [Prevalence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) in the Hungarian population].
abstract: MTHFR encodes a critical enzyme in folate and homocysteine metabolism and the C677T allele of the MTHFR gene has some association with an increased risk for neural-tube defects and for adult cardiovascular diseases. As part of an international collaborative study the prevalence of C677T homozygous genotype was 11.1% while the frequency of C677T heterozygous condition was 45.2% in the Hungarian neonate sample. These findings underscore the clinical importance of the C677T variant in the Hungarian population and urge population-based prevention of conditions related to such gene.
authors: Genetikai Artalmak Társadalmi Megelózése Alapítvány, Budapest.
authors: E
authors: E
authors: Czeizel
authors: L
authors: L
authors: Tímár
authors: L
authors: L
authors: Botto
mesh_terms: D000483:Alleles; D005060:Europe / Q000453:epidemiology; D005492:Folic Acid / Q000008:administration & dosage / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D020138:Hyperhomocysteinemia / Q000235:genetics; D007391:International Cooperation; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D009436:Neural Tube Defects / Q000235:genetics; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D011110:Polymorphism, Genetic; D015995:Prevalence
chemical_list: D005492:Folic Acid; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)