Mirella Graziano

Catholic University of the Sacred Heart , Milano, Lombardy, Italy

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Publications (5)13.34 Total impact

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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.
    No preview · Article · Jan 2014 · Cell Biochemistry and Function
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    ABSTRACT: BACKGROUND AND AIMS: The relevance of folate, other B-vitamins and homocysteine (Hcy) for the occurrence or prevention of several diseases has induced growing interest. Unfortunately, little evidence is available regarding B-vitamin concentrations in Italy. This study evaluated in a region of middle-southern Italy, folate, vitamin B12 and Hcy concentrations and the prevalence of their ideal blood levels. The main determinants of B-vitamins and Hcy were also considered. METHODS AND RESULTS: Male and female blood donors (n=240), aged 18-66 years and living in Molise region (Italy), were enrolled in the study. They completed a brief questionnaire concerning fruit and vegetables intake, physical activity and smoking; serum and red blood cell (RBC) folate and serum vitamin B12 were measured by an immunoassay on an automated analyzer. Total Hcy was measured by high performance liquid chromatography (HPLC). Geometric means of serum folate, RBC folate and serum vitamin B12 were 10.8nmoll(-1), 426.0nmoll(-1) and 245.0pmoll(-1), respectively. Only 22.5%, 24.2% and 16.3% of blood donors showed an adequate level of serum folate, RBC folate or serum vitamin B12 respectively. When a cut-off of RBC folate ≥906nmoll(-1) was used no women of childbearing age had adequate levels. A geometric mean of 14.0μmoll(-1) was found for total Hcy, with an ideal concentration in 12.1% of subjects. Folate concentration was higher in women and non-smokers and in subjects with higher consumption of fruit and vegetable. CONCLUSION: This study shows a low-moderate B-vitamins status in middle-southern Italy, associated with an inadequate fruit and vegetable consumption. A public health strategy should be undertaken to encourage a B-vitamin-rich diet with the addition of vitamin supplements or vitamin fortified foods in population subgroups with special needs.
    No preview · Article · Dec 2011 · Nutrition, metabolism, and cardiovascular diseases: NMCD
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    ABSTRACT: Background: 5,10-methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of homocysteine metabolism. Hyperhomocysteinemia, frequently associated with cardiovascular disease, congenital defects, pregnancy complications, and cancer, can derive from MTHFR impaired activity, depending on some common mutations such as C677T and A1298C. In this study we evaluated the genotype and the allele frequencies of the polymorphisms C677T and A1298C of MTHFR in 104 newborns from central-southern Italy. Materials and Methods: C677T and A1298C polymorphisms were analyzed by polymerase chain reaction (PCR-RFLP). Results: The 677TT and 1298CC genotypes showed a frequency of 25.0% and 12.5% respectively; the frequency of the mutated alleles was 50.5% for 677T and 32.7% for 1298C. The analysis of the genotype combination showed a significant negative linkage disequilibrium. Conclusions: The results showed interesting new data concerning the higher prevalence of the 1298CC genotype; furthermore, the frequency of the 677TT genotype could induce consideration of a nutrition policy based on folic acid supplementation.
    No preview · Article · Nov 2009 · Laboratory Medicine
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    ABSTRACT: We evaluated the prevalence of human papillomavirus (HPV) infection and correlated the molecular test results with the cytological examination data (PAP test) in 364 women living in central-southern Italy (Molise region), by means of polymerase chain reaction HPV DNA genotyping and of cervical cytology. One hundred and twenty-eight women resulted HPV positive (35.2%), HPV16 being the most frequent genotype. HPV positive women were significantly younger than negative patients (35.9 +/- 8.4 years and 38.2 +/- 9.1, respectively; p = 0.018); women with multiple infections were also significantly younger than those with single infection (31.7 +/- 6.9 and 37.6 +/- 8.3, respectively; p = 0.0002). Moreover, high risk HPV positive patients were significantly younger than low risk HPV positive women (35.1 +/- 7.7 and 40.5 +/- 10.5, respectively; p = 0.008). In the HPV positive group, 14 patients (10.9%) did not show any significant cytological alteration. Conversely, 7 out of 236 HPV negative women (3.0%) showed high grade squamous intraepithelial lesions (HSIL). Furthermore, HPV 16 or 18 were present in more than 70% of women positive for HSIL at cytology. Our data suggest the potential effectiveness of combined cytology and molecular test for further study of clinical cases with apparently laboratory conflicting results.
    Preview · Article · Oct 2009 · The New Microbiologica: official journal of the Italian Society for Medical Virology (SIVIM)

  • No preview · Article · Jul 2007 · Journal of Thrombosis and Haemostasis

Publication Stats

27 Citations
13.34 Total Impact Points


  • 2011-2014
    • Catholic University of the Sacred Heart
      Milano, Lombardy, Italy
  • 2009
    • The Catholic University of America
      Washington, Washington, D.C., United States