Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women

Abstract Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence...

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Main Authors: Adriana de Góes Soligo, Ricardo Barini, Joyce Maria Annichino-Bizzacchi
Format: Article
Language:English
Published: Federação Brasileira das Sociedades de Ginecologia e Obstetrícia 2017-12-01
Series:Revista Brasileira de Ginecologia e Obstetrícia
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032017001200659&tlng=en
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author Adriana de Góes Soligo
Ricardo Barini
Joyce Maria Annichino-Bizzacchi
author_facet Adriana de Góes Soligo
Ricardo Barini
Joyce Maria Annichino-Bizzacchi
author_sort Adriana de Góes Soligo
collection DOAJ
description Abstract Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. Methods This case-control study included 130 infertile women consulting at a private clinic betweenMarch 2003 andMarch 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013. Data analysis The Chi-squared and Fisher Exact tests were used to evaluate the association between the presence of the MTHFR C677T mutation and a history of infertility. Results The frequency of the mutation was of 58.5% for the case group (n = 76) and of 49.2% for the fertile controls (n = 128). The mutation was homozygous in 13 women in the case group (10%) and in 23 of the fertile women in the control group (8.8%). These differences were not statistically significant. Conclusions These results suggest that the presence of the MTHFR C677T mutation does not constitute a risk factor for infertility, even when themutation is homozygous. Further studies are needed to confirm whether research on this mutation should be considered unnecessary in women with infertility.
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spelling doaj.art-8c7a37df34cd4031bebc7f618c3491f62022-12-21T21:23:19ZengFederação Brasileira das Sociedades de Ginecologia e ObstetríciaRevista Brasileira de Ginecologia e Obstetrícia0100-72032017-12-01391265966210.1055/s-0037-1606289Prevalence of the MTHFR C677T Mutation in Fertile and Infertile WomenAdriana de Góes SoligoRicardo BariniJoyce Maria Annichino-BizzacchiAbstract Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. Methods This case-control study included 130 infertile women consulting at a private clinic betweenMarch 2003 andMarch 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013. Data analysis The Chi-squared and Fisher Exact tests were used to evaluate the association between the presence of the MTHFR C677T mutation and a history of infertility. Results The frequency of the mutation was of 58.5% for the case group (n = 76) and of 49.2% for the fertile controls (n = 128). The mutation was homozygous in 13 women in the case group (10%) and in 23 of the fertile women in the control group (8.8%). These differences were not statistically significant. Conclusions These results suggest that the presence of the MTHFR C677T mutation does not constitute a risk factor for infertility, even when themutation is homozygous. Further studies are needed to confirm whether research on this mutation should be considered unnecessary in women with infertility.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032017001200659&tlng=eninfertilitythrombophiliaMTHFR C677T mutation
spellingShingle Adriana de Góes Soligo
Ricardo Barini
Joyce Maria Annichino-Bizzacchi
Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women
Revista Brasileira de Ginecologia e Obstetrícia
infertility
thrombophilia
MTHFR C677T mutation
title Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women
title_full Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women
title_fullStr Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women
title_full_unstemmed Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women
title_short Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women
title_sort prevalence of the mthfr c677t mutation in fertile and infertile women
topic infertility
thrombophilia
MTHFR C677T mutation
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032017001200659&tlng=en
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