CC BY-NC-ND 4.0 · Rev Bras Ginecol Obstet 2017; 39(12): 659-662
DOI: 10.1055/s-0037-1606289
Original Article
Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil

Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women

Prevalência da mutação MTHFR C677T em mulheres férteis e inférteis
Adriana de Góes Soligo
1   Department of Tocogynecology, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil
,
Ricardo Barini
1   Department of Tocogynecology, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil
,
Joyce Maria Annichino-Bizzacchi
2   Department of Hematology, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil
› Institutsangaben
Weitere Informationen

Publikationsverlauf

02. Dezember 2016

12. Juni 2017

Publikationsdatum:
28. August 2017 (online)

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 between March 2003 and March 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 the mutation is homozygous. Further studies are needed to confirm whether research on this mutation should be considered unnecessary in women with infertility.

Resumo

Introdução A importância da mutação C677T no gene da metilenotetrahidrofolato redutase (MTHFR) em mulheres com infertilidade permanece controversa.

Objetivo Avaliar se a mutação MTHFR C677T é mais frequente em mulheres inférteis, e se pode ser associada com a ocorrência de infertilidade na população brasileira.

Métodos Estudo de caso-controle, com avaliação de 130 mulheres com infertilidade atendidas em clínica privada no período de março de 2003 a março de 2005 (dados previamente publicados) e 260 mulheres férteis atendidas no ambulatório de planejamento familiar de nossa instituição no período de abril de 2012 a março de 2013.

Análise dos dados Foram utilizados os testes de Qui-quadrado e Exato de Fisher para o estudo da associação entre a presença da mutação MTHFR C677T e o antecedente de infertilidade.

Resultados A frequência da mutação foi de 58,5% nos casos (n = 76) e de 49,2% nos controles (n = 128). Dentre os casos, 13 apresentavam esta mutação em homozigose (10%). Nos controles, a homozigose foi encontrada em 23 mulheres férteis (8,8%). Estas diferenças não foram estatisticamente significativas.

Conclusões Este estudo sugere que a presença da mutação MTHFR C677T não constitui fator de risco para infertilidade, mesmo em casos de homozigose. Estudos complementares são necessários para ratificar se a investigação desta mutação deve ser considerada desnecessária em mulheres com infertilidade.

Funding

Fundação de Amparo à Pesquisa do Estado de São Paulo (Fapesp) provided financial support under grant number 2010/09615–0.


Role of Funding Source

The sponsor had no involvement in the study design, in the collection, analysis or interpretation of data, in the writing of the report, or in the decision to submit the article for publication.


 
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