Document Detail

Relationships between gene polymorphisms of folate-related proteins and vitamins and metabolites in pregnant women and neonates.
MedLine Citation:
PMID:  18823966     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: The methylenetetrahydrofolate reductase (MTHFR), glutamate carboxypeptidase II (GCPII) and reduced folate carrier (RFC1) gene polymorphisms were associated with folate status. We investigated the effects of these polymorphisms on serum folate (SF) and folate-related metabolites in mothers and their neonates.
METHODS: Cobalamin (Cbl), SF, total homocysteine (tHcy), methylmalonic acid (MMA), S-adenosylmethionine (SAM), and S-adenosylhomocysteine (SAH) were measured in 275 healthy women and their neonates. MTHFR C677T, GCPII C1561T and RFC1 A80G polymorphisms were determined by PCR-RFLP.
RESULTS: Maternal tHcy was affected individually by MTHFR C677T and GCPII C1561T polymorphisms and by combined genotypes MTHFR 677TT/GCPII 1561CC and MTHFR 677TT/RFC1 80AG. The MTHFR and RFC1 polymorphisms were not associated with variations in vitamins or SAM, SAH and MMA in neonates. Neonatal tHcy was predicted directly by maternal tHcy and inversely by maternal SF, neonatal Cbl and neonatal RFC1 80G allele (AG+GG genotypes). Maternal MMA and SAM/SAH were predicted by creatinine and Cbl, respectively. Neonatal MMA was predicted by maternal MMA and GCPII 1561T allele (CT+TT genotypes) and by neonatal Cbl.
CONCLUSIONS: Maternal tHcy was affected by MTHFR C677T, RFC1 A80G and GCPII C1561T polymorphisms. Maternal GCPII C1561T variant was associated with neonatal MMA. Neonatal RFC1 A80G polymorphism influenced tHcy in neonates.
Fernanda R Lopreato; Sally P Stabler; Felipe R Carvalho; Rosario D C Hirata; Mario H Hirata; Débora L Robi; Luiz F Sampaio-Neto; Robert H Allen; Elvira M Guerra-Shinohara
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-09-11
Journal Detail:
Title:  Clinica chimica acta; international journal of clinical chemistry     Volume:  398     ISSN:  0009-8981     ISO Abbreviation:  Clin. Chim. Acta     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-10-28     Completed Date:  2009-01-21     Revised Date:  2011-02-11    
Medline Journal Info:
Nlm Unique ID:  1302422     Medline TA:  Clin Chim Acta     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  134-9     Citation Subset:  IM    
Departamento de Análises Clínicas e Toxicológicas, Faculdade de Ciências Farmacêuticas da Universidade de São Paulo, Brazil.
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MeSH Terms
Brazil / epidemiology
DNA / genetics
Embryonic Development / drug effects
Ethnic Groups
Folic Acid / blood,  metabolism*
Glutamate Carboxypeptidase II / genetics*
Homocysteine / blood
Infant, Newborn
Methylmalonic Acid / blood
Polymorphism, Genetic / genetics*
Polymorphism, Restriction Fragment Length
Pregnancy / metabolism*
Reduced Folate Carrier Protein / genetics*
Reverse Transcriptase Polymerase Chain Reaction
S-Adenosylhomocysteine / blood
S-Adenosylmethionine / blood
Socioeconomic Factors
Vitamin B 12 / blood
Vitamin B Complex / blood,  metabolism*
Young Adult
Reg. No./Substance:
0/Reduced Folate Carrier Protein; 0/SLC19A1 protein, human; 12001-76-2/Vitamin B Complex; 29908-03-0/S-Adenosylmethionine; 454-28-4/Homocysteine; 516-05-2/Methylmalonic Acid; 59-30-3/Folic Acid; 68-19-9/Vitamin B 12; 9007-49-2/DNA; 979-92-0/S-Adenosylhomocysteine; EC Carboxypeptidase II

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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