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Licensed Unlicensed Requires Authentication Published by De Gruyter September 12, 2012

Plasma homocysteine and vitamin B12 serum levels, red blood cell folate concentrations, C677T methylenetetrahydrofolate reductase gene mutation and risk of recurrent miscarriage: a case-control study in Spain

  • Montserrat Creus , Ramon Deulofeu , Joana Peñarrubia , Francisco Carmona and Juan Balasch EMAIL logo


Background: Hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) gene mutation have been postulated as a possible cause of recurrent miscarriage (RM). There is a wide variation in the prevalence of MTHFR polymorphisms and homocysteine (Hcy) plasma levels among populations around the world. The present study was undertaken to investigate the possible association between hyperhomocysteinemia and its causative genetic or acquired factors and RM in Catalonia, a Mediterranean region in Spain.

Methods: Sixty consecutive patients with ≥3 unexplained RM and 30 healthy control women having at least one child but no previous miscarriage were included. Plasma Hcy levels, MTHFR gene mutation, red blood cell (RBC) folate and vitamin B12 serum levels were measured in all subjects.

Results: No significant differences were observed neither in plasma Hcy levels, RBC folate and vitamin B12 serum levels nor in the prevalence of homozygous and heterozygous MTHFR gene mutation between the two groups studied.

Conclusions: In the present study RM is not associated with hyperhomocysteinemia, and/or the MTHFR gene mutation.

Corresponding author: Juan Balasch, MD, Clinical Institute of Gynecology, Obstetrics and Neonatology, Hospital Clínic-Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine-University of Barcelona, C/Casanova 143, 08036 Barcelona, Spain, Phone: +34 93 2275436, Fax: +34 93 2275454

Conflict of interest statement

Authors’ conflict of interest disclosure: The authors stated that there are no conflicts of interest regarding the publication of this article.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.


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Received: 2012-7-2
Accepted: 2012-8-28
Published Online: 2012-09-12
Published in Print: 2013-03-01

©2013 by Walter de Gruyter Berlin Boston

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