title: Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women.
abstract: Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations - factor V (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T - in women with recurrent miscarriages. In this case-control study, we included 137 women with two or more consecutive first-trimester miscarriages (£12 weeks of gestation) and 100 healthy women with no history of pregnancy loss, and with at least one living child. DNA was extracted from the patient samples, and the relevant genes (FVL, FII, and MTHFR) were amplified by PCR, followed by restriction fragment length polymorphism, to assess the polymorphisms in these genes. The allelic frequencies of polymorphisms were not significantly different between the case and control groups. Polymorphisms in the MTHFR, FVL, and FII genes were not associated with recurrent miscarriage during the first trimester of pregnancy in Brazilian women (P = 0.479; P = 0.491 and P = 0.107, respectively). However, the etiologic identification of genetic factors is important for genetic counseling.
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, BA, Brasil.
authors.forename: R O
authors.initials: RO
authors.lastname: Gonçalves
authors.affiliation: Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil.
authors.forename: L R
authors.initials: LR
authors.lastname: Fraga
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, BA, Brasil.
authors.forename: W V B
authors.initials: WV
authors.lastname: Santos
authors.affiliation: Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: A F L
authors.initials: AF
authors.lastname: Carvalho
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, BA, Brasil.
authors.forename: B A V
authors.initials: BA
authors.lastname: Veloso Cerqueira
authors.affiliation: Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: M
authors.initials: M
authors.lastname: Sarno
authors.affiliation: Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: M B P
authors.initials: MB
authors.lastname: Toralles
authors.affiliation: Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: M J
authors.initials: MJ
authors.lastname: Vieira
authors.affiliation: Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil.
authors.forename: C G
authors.initials: CG
authors.lastname: Dutra
authors.affiliation: Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil.|Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.
authors.forename: L
authors.initials: L
authors.lastname: Schüler-Faccini
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.
authors.forename: M T V
authors.initials: MT
authors.lastname: Sanseverino
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisa Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, BA, Brasil.
authors.forename: M S
authors.initials: MS
authors.lastname: Gonçalves
authors.affiliation: Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil.
authors.forename: F S L
authors.initials: FS
authors.lastname: Vianna
authors.affiliation: Universidade Federal da Bahia, Salvador, BA, Brasil.
authors.forename: O L N
authors.initials: OL
authors.lastname: Costa
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)