Document Detail

A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss.
MedLine Citation:
PMID:  16123074     Owner:  NLM     Status:  MEDLINE    
Low maternal folate or vitamin B12 status has been implicated in numerous pregnancy complications including spontaneous abortion. The primary aim of this study was to test a polymorphism within the trifunctional folate enzyme MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase) for an association with a mother's risk of having an unexplained second trimester pregnancy loss. We genotyped 125 women who had at least one unexplained spontaneous abortion or intrauterine fetal death between 13 and 26 weeks gestation and 625 control women with no history of prior pregnancy loss. Our study is the first to identify an association between the MTHFD1 1958G-->A (R653Q) polymorphism and the maternal risk of having an unexplained second trimester pregnancy loss. Women who are MTHFD1 1958AA homozygous have a 1.64-fold increased risk of having an unexplained second trimester loss compared to women who are MTHFD1 1958AG or 1958GG [OR 1.64 (1.05-2.57), P = 0.03]. It has been reported that polymorphisms in 5,10-methylenetetrahydrofolate reductase (MTHFR), 677C-->T (A222V), transcobalamin II (TCII), 776C-->G (P259R), are associated with pregnancy loss. Both variants were tested in this study. Neither showed evidence of significantly affecting the maternal risk of having a second trimester pregnancy loss. In conclusion, the MTHFD1 1958AA genotype may be an important maternal risk factor to consider during pregnancy.
Anne Parle-McDermott; Faith Pangilinan; James L Mills; Caroline C Signore; Anne M Molloy; Amanda Cotter; Mary Conley; Christopher Cox; Peadar N Kirke; John M Scott; Lawrence C Brody
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Molecular human reproduction     Volume:  11     ISSN:  1360-9947     ISO Abbreviation:  Mol. Hum. Reprod.     Publication Date:  2005 Jul 
Date Detail:
Created Date:  2005-08-26     Completed Date:  2005-12-14     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9513710     Medline TA:  Mol Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  477-80     Citation Subset:  IM    
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland.
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MeSH Terms
Aborted Fetus / enzymology
Abortion, Spontaneous / genetics*
Aminohydrolases / genetics*
Formate-Tetrahydrofolate Ligase / genetics*
Genetic Predisposition to Disease*
Methylenetetrahydrofolate Dehydrogenase (NADP) / genetics*
Multienzyme Complexes / genetics*
Point Mutation
Polymorphism, Genetic
Pregnancy Trimester, Second / genetics*
Grant Support
Reg. No./Substance:
0/Multienzyme Complexes; 0/methylene tetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase; EC Dehydrogenase (NADP); EC 3.5.4.-/Aminohydrolases; EC Ligase

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