5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms: Genotype frequency and association with homocysteine and folate levels in middle-southern Italian adults

Bruno Zappacosta, Mirella Graziano, Silvia Persichilli, Augusto Di Castelnuovo, Pierpaolo Mastroiacovo, Licia Iacoviello

Research output: Contribution to journalArticle

Abstract

Two genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) can influence the plasma homocysteine (Hcy) levels, especially in the presence of an inadequate folate status. The aim of this study was to evaluate the frequencies of C677T and of A1298C MTHFR polymorphisms and their correlation with Hcy and serum folate concentrations in a population of blood donors living in a region of middle-southern Italy (the Molise Region). One hundred ninety seven blood donors were studied for total plasma Hcy, serum folate and C677T and A1298C MTHFR genotypes. The frequency of C677T genotypes was 20.8% (CC), 49.8% (CT) and 29.4% (TT); for the A1298C genotypes: 48.7% (AA), 43.7% (AC) and 7.6% (CC). Hcy and serum folate concentrations were significantly different among genotypes of the C677T polymorphism (CC versus CT versus TT:

Original languageEnglish
Pages (from-to)1-4
Number of pages4
JournalCell Biochemistry and Function
Volume32
Issue number1
DOIs
Publication statusPublished - Jan 2014

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Keywords

  • Folate
  • Genetic polymorphisms
  • Homocysteine
  • MTHFR

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Clinical Biochemistry

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