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

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

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

Fingerprint Dive into the research topics of 'Genotype prevalence and allele frequencies of 5,10- methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in Italian newborns'. Together they form a unique fingerprint.

  • Cite this

    Zappacosta, B., Romano, L., Persichilli, S., Cutrone, L. A., 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, 40(12), 732-736. https://doi.org/10.1309/LMBES080OMMANDOZ