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Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss.
Vatin, Magalie; Bouvier, Sylvie; Bellazi, Linda; Montagutelli, Xavier; Laissue, Paul; Ziyyat, Ahmed; Serres, Catherine; De Mazancourt, Philippe; Dieudonné, Marie-Noelle; Mornet, Etienne; Vaiman, Daniel; Gris, Jean-Christophe.
Afiliação
  • Vatin M; French Institute of Health and Medical Research (INSERM) U1016, Institut Cochin, Paris, France; French National Centre for Scientific Research (CNRS), UMR 8104, Paris, France; University of Paris V: René Descartes, Paris, France.
  • Bouvier S; Department of Haematology, University Hospital, and EA2992, University of Montpellier 1, Nîmes, France; Laboratory of Haematology, Faculty of Pharmaceutical and Biological Sciences, University of Montpellier 1, Montpellier, France.
  • Bellazi L; Cellular and Genetic Pathology Unit, EA 2493, Faculty of Health Sciences, Paris-Ile de France Ouest, University of Versailles Saint-Quentin-en-Yvelines, Versailles, France.
  • Montagutelli X; Department of Functional Mouse Genetics, Institut Pasteur, Paris, France.
  • Laissue P; Genetics Unit, School of Medicine and Health Sciences, University of Rosario, Bogotá, Colombia; Department of Functional Genomics and Molecular Genetics, VITA, Center of Reproduction Assistance, Bogotá, Colombia.
  • Ziyyat A; French Institute of Health and Medical Research (INSERM) U1016, Institut Cochin, Paris, France; French National Centre for Scientific Research (CNRS), UMR 8104, Paris, France; University of Paris V: René Descartes, Paris, France.
  • Serres C; French Institute of Health and Medical Research (INSERM) U1016, Institut Cochin, Paris, France; French National Centre for Scientific Research (CNRS), UMR 8104, Paris, France; University of Paris V: René Descartes, Paris, France.
  • De Mazancourt P; Cellular and Genetic Pathology Unit, EA 2493, Faculty of Health Sciences, Paris-Ile de France Ouest, University of Versailles Saint-Quentin-en-Yvelines, Versailles, France.
  • Dieudonné MN; Cellular and Genetic Pathology Unit, EA 2493, Faculty of Health Sciences, Paris-Ile de France Ouest, University of Versailles Saint-Quentin-en-Yvelines, Versailles, France.
  • Mornet E; Cellular and Genetic Pathology Unit, EA 2493, Faculty of Health Sciences, Paris-Ile de France Ouest, University of Versailles Saint-Quentin-en-Yvelines, Versailles, France.
  • Vaiman D; French Institute of Health and Medical Research (INSERM) U1016, Institut Cochin, Paris, France; French National Centre for Scientific Research (CNRS), UMR 8104, Paris, France; University of Paris V: René Descartes, Paris, France. Electronic address: daniel.vaiman@inserm.fr.
  • Gris JC; Department of Haematology, University Hospital, and EA2992, University of Montpellier 1, Nîmes, France; Laboratory of Haematology, Faculty of Pharmaceutical and Biological Sciences, University of Montpellier 1, Montpellier, France.
Am J Pathol ; 184(2): 362-8, 2014 Feb.
Article em En | MEDLINE | ID: mdl-24296104
ABSTRACT
Fertility is a quantitative, complex character governed by a considerable number of genes. Despite clinical and scientific advances, several cases of human infertility remain unexplained. In the present study, using a positional cloning approach in a mouse model of interspecific recombinant lines, a candidate gene, ALPP, encoding the placental alkaline phosphatase, was identified as being potentially involved in recurrent spontaneous abortion. We then analyzed patients for detecting putative associations between ALPP polymorphisms, in vitro fertilization failures, and miscarriages. ALPP was sequenced in 100 controls and 100 patients affected by recurrent spontaneous abortion, from the same ethnic background. The frequency of several alleles and allelic combinations were different between recurrent spontaneous abortion and control women. One polymorphism induced a coding substitution (Ile89Leu) that was associated with a decreased risk of abortion and in vitro fertilization failure. Thereafter, the population was increased by the analysis of 92 additional controls and 612 additional patients for the coding polymorphism Ile89Leu. We finally show, by functional analysis, that the 89Leu placental alkaline phosphatase has an enhanced alkaline phosphatase activity. This study suggests that ALPP genotyping could be a strong predictor of implantation success.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fertilização in vitro / Aborto Espontâneo / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Fosfatase Alcalina / Isoenzimas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Pregnancy Idioma: En Revista: Am J Pathol Ano de publicação: 2014 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fertilização in vitro / Aborto Espontâneo / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Fosfatase Alcalina / Isoenzimas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Pregnancy Idioma: En Revista: Am J Pathol Ano de publicação: 2014 Tipo de documento: Article País de afiliação: França