title: Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion.
abstract: OBJECTIVE
  To investigate the association between polymorphisms in genes that encode enzymes involved in folate- and vitamin B12-dependent homocysteine metabolism and recurrent spontaneous abortion (RSA).
  
  
  METHODS
  We investigated the C677T and A1298C polymorphisms of the methylenetetrahydrofalate reductase gene (MTHFR), the A2756G polymorphism of the methionine synthase gene (MS) and the 844ins68 insertion of the cystathionine beta synthetase gene (CBS). The PCR technique followed by RFLP was used to assess the polymorphisms; the serum levels of homocysteine, vitamin B12 and folate were investigated by chemiluminescence. The EPI Info Software version 6.04 was used for statistical analysis. Parametric variables were compared by Student's t-test and nonparametric variables by the Wilcoxon rank sum test.
  
  
  RESULTS
  The frequencies of gene polymorphisms in 89 women with a history of idiopathic recurrent miscarriage and 150 controls were 19.1 and 19.6% for the C677T, insertion, 20.8 and 26% for the A1298C insertion, 14.2 and 21.9% for the A2756G insertion, and 16.4 and 18% for the 844ins68 insertion, respectively. There were no significant differences between case and control groups in any of the gene polymorphisms investigated. However, the frequency of the 844ins68 insertion in the CBS gene was higher among women with a history of loss during the third trimester of pregnancy (p=0.003). Serum homocysteine, vitamin B12 and folate levels id not differ between the polymorphisms studied in the case and control groups. However, linear regression analysis showed a dependence of serum folate levels on the maintenance of tHcy levels.
  
  
  CONCLUSIONS
  The investigated gene polymorphisms and serum homocysteine, vitamin B12 and folate levels were not associated with idiopathic recurrent miscarriage in the present study. Further investigations are needed in order to confirm the role of the CBS 844ins68 insertion in recurrent miscarriage.
authors.affiliation: Centro de Pesquisas Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, BA, Brazil.
authors.forename: Wendell Vilas
authors.initials: WV
authors.lastname: Boas
authors.affiliation: Centro de Pesquisas Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, BA, Brazil.
authors.forename: Rozana Oliveira
authors.initials: RO
authors.lastname: Gonçalves
authors.affiliation: Departamento de Ginecologia e Obstetrícia, Universidade Federal da Bahia, Salvador, BA, Brazil.
authors.forename: Olívia Lúcia Nunes
authors.initials: OL
authors.lastname: Costa
authors.affiliation: Centro de Pesquisas Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, BA, Brazil.
authors.forename: Marilda Souza
authors.initials: MS
authors.lastname: Goncalves
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics* / Q000378:metabolism*; D000293:Adolescent; D000328:Adult; D001938:Brazil; D016022:Case-Control Studies; D005260:Female; D005492:Folic Acid / Q000502:physiology*; D006710:Homocysteine / Q000378:metabolism*; D006801:Humans; D011110:Polymorphism, Genetic; D015398:Signal Transduction / Q000235:genetics; D014805:Vitamin B 12 / Q000502:physiology; D055815:Young Adult
chemical_list: D006710:Homocysteine; D005492:Folic Acid; D014805:Vitamin B 12