THBD sequence variants potentially related to recurrent pregnancy loss

Paula Quintero-Ronderos 1 Eric Mercier 2, 3 Jean-Christophe Gris 2, 3 Clara Esteban-Perez 4 Harold Moreno-Ortiz 4 Dora Janeth Fonseca 1 Elkin Lucena 4 Daniel Vaiman 5 Paul Laissue 1, *
* Auteur correspondant
1 GENIUROS Research Group - Center For Research in Genetics and Genomics-CIGGUR [Bogotá, Colombia]
2 Service d'Hématologie [CHRU Nîmes]
3 EA 2992 - Caractéristiques féminines des dysfonctions des interfaces cardio-vasculaires
4 Department of Reproductive Genetics [Bogotá, Colombia]
5 UM3 (UMR 8104 / U1016) - Institut Cochin
Abstract : AbstractRecurrent pregnancy loss (RPL) is a frequently occurring disease, which is classified as idiopathic in more than 50% of cases. THBD, the endothelial cell receptor for thrombin, has been associated with distinct biological processes and considered a coherent RPL-related candidate gene. In the present study, we have sequenced the complete coding region of THBD in 262 patients affected by RPL. Bioinformatics analysis and screening of controls strongly suggested that the THBD-p.Trp153Gly mutation might be related to RPL aetiology. It could be used, after its validation by functional assays, as a molecular marker for diagnostic/prognostic purposes.
Keywords : Recurrent pregnancy loss THBD Molecular marker Female infertility
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Article dans une revue
Reproductive Biology and Endocrinology, BioMed Central, 2016, 15 (1), pp.92. 〈10.1186/s12958-017-0311-0〉
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Paula Quintero-Ronderos, Eric Mercier, Jean-Christophe Gris, Clara Esteban-Perez, Harold Moreno-Ortiz, et al.. THBD sequence variants potentially related to recurrent pregnancy loss. Reproductive Biology and Endocrinology, BioMed Central, 2016, 15 (1), pp.92. 〈10.1186/s12958-017-0311-0〉. 〈inserm-01654096〉

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