Genotype prevalence and allele frequencies of 5,10- methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in Italian newborns

Bruno Zappacosta, Lucio Romano, Silvia Persichilli, Luigi A. Cutrone, Mirella Graziano, Antonia Vitrani, Augusto Di Castelnuovo, Bruno Giardina, Salvatore Musumeci, Pierpaolo Mastroiacovo

Research output: Contribution to journalArticle

14 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)732-736
Number of pages5
JournalLaboratory Medicine
Volume40
Issue number12
DOIs
Publication statusPublished - Dec 2009

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Methylenetetrahydrofolate Reductase (NADPH2)
Polymorphism
Gene Frequency
Genotype
Newborn Infant
Polymerase chain reaction
Homocysteine
Nutrition
Folic Acid
Metabolism
Nutrition Policy
Polymerase Chain Reaction
Hyperhomocysteinemia
Pregnancy Complications
Linkage Disequilibrium
Defects
Restriction Fragment Length Polymorphisms
Italy
Enzymes
Cardiovascular Diseases

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Zappacosta, B., Romano, L., Persichilli, S., Cutrone, L. A., Graziano, M., Vitrani, A., ... Mastroiacovo, P. (2009). Genotype prevalence and allele frequencies of 5,10- methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in Italian newborns. Laboratory Medicine, 40(12), 732-736. https://doi.org/10.1309/LMBES080OMMANDOZ

Genotype prevalence and allele frequencies of 5,10- methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in Italian newborns. / Zappacosta, Bruno; Romano, Lucio; Persichilli, Silvia; Cutrone, Luigi A.; Graziano, Mirella; Vitrani, Antonia; Di Castelnuovo, Augusto; Giardina, Bruno; Musumeci, Salvatore; Mastroiacovo, Pierpaolo.

In: Laboratory Medicine, Vol. 40, No. 12, 12.2009, p. 732-736.

Research output: Contribution to journalArticle

Zappacosta, B, Romano, L, Persichilli, S, Cutrone, LA, Graziano, M, Vitrani, A, Di Castelnuovo, A, Giardina, B, Musumeci, S & Mastroiacovo, P 2009, 'Genotype prevalence and allele frequencies of 5,10- methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in Italian newborns', Laboratory Medicine, vol. 40, no. 12, pp. 732-736. https://doi.org/10.1309/LMBES080OMMANDOZ
Zappacosta, Bruno ; Romano, Lucio ; Persichilli, Silvia ; Cutrone, Luigi A. ; Graziano, Mirella ; Vitrani, Antonia ; Di Castelnuovo, Augusto ; Giardina, Bruno ; Musumeci, Salvatore ; Mastroiacovo, Pierpaolo. / Genotype prevalence and allele frequencies of 5,10- methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in Italian newborns. In: Laboratory Medicine. 2009 ; Vol. 40, No. 12. pp. 732-736.
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AU - Cutrone, Luigi A.

AU - Graziano, Mirella

AU - Vitrani, Antonia

AU - Di Castelnuovo, Augusto

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AU - Musumeci, Salvatore

AU - Mastroiacovo, Pierpaolo

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