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mutacao-mthfr

11 de setembro de 2015

Mutação da MTHFR e aborto

Association of anticardiolipin antibody and C677T MTHFR mutation in recurrent spontaneous aborting women: a new path to thrombophilia?

Authors:

Egle Couto – MD, Ph.D., Department of Gynecology and Obstetrics, Campinas University, São Paulo, Brazil

Ricardo Barini – MD, Ph.D., Department of Gynecology and Obstetrics, Campinas University, São Paulo, Brazil

Joyce Maria Annicchino-Bizzacchi – MD, Ph.D., Department of Internal Medicine – Discipline of Hematology, Campinas University, São Paulo, Brazil

Renato Passini Junior – MD, Ph.D., Department of Gynecology and Obstetrics, Campinas University, São Paulo, Brazil

Belmiro Gonçalves Pereira – MD, Ph.D., Department of Gynecology and Obstetrics, Campinas University, São Paulo, Brazil

José Carlos Gama da Silva – MD, Ph.D., Department of Gynecology and Obstetrics, Campinas University, São Paulo, Brazil

João Luiz Pinto e Silva – MD, Ph.D., Department of Gynecology and Obstetrics, Campinas University, São Paulo, Brazil

ABSTRACT

PROBLEM: To evaluate the association between thrombogenic factors and recurrent spontaneous abortion (RSA).

METHOD OF STUDY: A case-control study included 88 women with RSA and 88 fertile women, matched by age and race. Anticardiolipin antibody (ACA), lupus anticoagulant, protein C, S and antithrombin III deficiencies were evaluated by ELISA, dRVVT, coagulometric and chromogenic methods. DNA was amplified by PCR to study the mutations Leiden factor V, G20210A in prothrombin gene and C677T in methylene tetrahydrofolate reductase (MTHFR) gene.

RESULTS: ACA was detected in 11 women with RSA and in one fertile woman [OR 12.4 (CI 95% 1.5 to 98.5)]. Heterozygous C677T was detected in 59 women with RSA and in 35 fertile women [OR 3.1 (CI 95% 1.7 to 5.7)]. The concomitant presence of ACA and heterozygous C677T was found in 8 women with RSA and in no fertile women (p < 0.01).

CONCLUSIONS: ACA and heterozygous C677T in MTHFR gene are statistically associated with RSA. The association of these two conditions is a new find in thrombogenic factors and RSA.

KEY WORDS

Anticardiolipin antibody, methylene tetrahydrofolate reductase, recurrent abortion, thrombophilia, thrombosis.

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