Thrombophilic mutations and polymorphisms, alone or in combination, and recurrent spontaneous abortion.
Generally, recurrent spontaneous abortions (RSAs) have no identifiable cause; yet, vascular alterations during pregnancy may be associated with pregnancy loss. Therefore, we evaluated the association between thrombophilic mutations and RSAs. This case-control study was conducted in 112 patients who had RSAs and 98 health control women. Genomic DNA was extracted from whole blood, and polymorphism genotyping was conducted using polymerase chain reaction. The following 6 genetic variants were analyzed: factor V Leiden, prothrombin mutation, methylenetetrahydrofolate reductase C677T and A1298C, plasminogen activator inhibitor type 1 (4G>5G), and factor XIII G103T (V34L). No correlations were found in any of the investigated polymorphisms. Moreover, 35.0% of cases and 25.5% of controls had at least 2 mutations in combination, and 4.8% of cases and 5.1% of controls had 3, but these combinations were not associated with additional risk. In conclusion, we found no association between the polymorphisms studied and the occurrence of RSAs.
Department of Obstetrics, Universidade Federal de São Paulo, São Paulo, Brazil Colsan Associação Beneficente de Coleta de Sangue, São Paulo, Brazil fabio@linoweb.com.
Fabio L
FL
Lino
Department of Obstetrics, Universidade Federal de São Paulo, São Paulo, Brazil.
Évelyn
É
Traina
Colsan Associação Beneficente de Coleta de Sangue, São Paulo, Brazil.
José Augusto
JA
Barreto
Department of Obstetrics, Universidade Federal de São Paulo, São Paulo, Brazil.
Antonio Fernandes
AF
Moron
Department of Obstetrics, Universidade Federal de São Paulo, São Paulo, Brazil.
Rosiane
R
Mattar
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D001798:Blood Proteins / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D019851:Thrombophilia / Q000235:genetics*
D001798:Blood Proteins
gene polymorphisms; gynecology and obstetrics; recurrent abortion; thrombophilia