TY - JOUR
T1 - 5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms
T2 - Genotype frequency and association with homocysteine and folate levels in middle-southern Italian adults
AU - Zappacosta, Bruno
AU - Graziano, Mirella
AU - Persichilli, Silvia
AU - Di Castelnuovo, Augusto
AU - Mastroiacovo, Pierpaolo
AU - Iacoviello, Licia
PY - 2014/1
Y1 - 2014/1
N2 - 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:
AB - 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:
KW - Folate
KW - Genetic polymorphisms
KW - Homocysteine
KW - MTHFR
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U2 - 10.1002/cbf.3019
DO - 10.1002/cbf.3019
M3 - Article
C2 - 24277487
AN - SCOPUS:84891834065
VL - 32
SP - 1
EP - 4
JO - Cell Biochemistry and Function
JF - Cell Biochemistry and Function
SN - 0263-6484
IS - 1
ER -