Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine and other risk factors for vascular disease

Corradino Motti, Agostino Gnasso, Sergio Bernardini, Renato Massoud, Anna Pastore, Paola Rampa, Giorgio Federici, Claudio Cortese

Research output: Contribution to journalArticle


A common mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene results in elevated homocysteine levels and, presumably, in increased atherosclerotic risk. We evaluated serum homocysteine levels, MTHFR genotype, and a panel of variables in a sample of 155 middle-aged Italian subjects (mean age 38.1 years). Biometrical, hematological, and biochemical variables (including serum folate and vitamin B12) and lifestyle characteristics were investigated. MTHFR genotype was studied by polymerase chain reaction. The frequency of the genotype Val/Val (homozygosity for the mutant: allele) as 16.13%. The Val/Val genotype was associated with increased levels of homocysteine; no differences among genotypes were seen in individuals with folate or vitamin B12 levels or above the median values. In multivariate analysis, MTHFR genotype was an independent predictor of homocysteine levels in both biochemical and non biochemical regression models. Sex and diastolic blood pressure emerged as non biochemical variables independently associated with homocysteine. Apart from cofactors, uric acid was the only biochemical variable independently associated with homocysteine, particularly in subjects with Val/Val genotype. The observed parallel increases in homocysteine and uric acid levels in subjects with thermolabile MTHFR warrant further investigation.

Original languageEnglish
Pages (from-to)377-383
Number of pages7
Issue number2
Publication statusPublished - Aug 4 1998



  • Coronary artery disease
  • Folic acid
  • Genetics
  • Homocysteine
  • Risk factor

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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