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

Authors

  • Bruno Zappacosta,

    Corresponding author
    1. Department of Laboratory Medicine, Fondazione di Ricerca e Cura ‘Giovanni Paolo II’. Università Cattolica del S. Cuore, Campobasso, Italy
    • Correspondence to: Bruno Zappacosta, Department of Laboratory Medicine, Fondazione di Ricerca e Cura ‘Giovanni Paolo II’. Università Cattolica del S. Cuore, Campobasso, Italy.

      E-mail: bzappacosta@rm.unicatt.it

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  • Mirella Graziano,

    1. Department of Laboratory Medicine, Fondazione di Ricerca e Cura ‘Giovanni Paolo II’. Università Cattolica del S. Cuore, Campobasso, Italy
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  • Silvia Persichilli,

    1. Department of Laboratory Medicine, Policlinico A. Gemelli, Università Cattolica del S. Cuore, Rome, Italy
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  • Augusto Di Castelnuovo,

    1. Department of Epidemiology and Prevention. IRCCS Istituto Neurologico Mediterraneo Neuromed, Pozzilli (IS), Italy
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  • Pierpaolo Mastroiacovo,

    1. ICBD, Alessandra Lisi International Centre on Birth Defects and Prematurity, Rome, Italy
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  • Licia Iacoviello

    1. Department of Epidemiology and Prevention. IRCCS Istituto Neurologico Mediterraneo Neuromed, Pozzilli (IS), Italy
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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: <0.0001 both for Hcy and folate), with Hcy values increasing, and serum folate decreasing, from CC to TT subjects. Regarding to A1298C polymorphism, the difference among genotypes (AA versus AC versus CC; p: 0.026 for Hcy and 0.014 for serum folate), showed an opposite trend for both parameters, with Hcy higher in the wild-type and lower in the homozygotes and serum folate higher in CC than in AA subjects. In conclusion, we found a high frequency of MTHFR allele associated with high level of Hcy and low levels of folate in an Italian southern population. Copyright © 2013 John Wiley & Sons, Ltd.

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