THBD sequence variants potentially related to recurrent pregnancy loss

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.

Mots clés

Recurrent pregnancy loss THBD Molecular marker Female infertility

Domaines

Sciences du Vivant [q-bio]

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12958_2017_Article_311.pdf (339.55 Ko)

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https://inserm.hal.science/inserm-01654096

Soumis le : dimanche 3 décembre 2017-05:24:04

Dernière modification le : lundi 22 avril 2024-10:48:04

Archivage à long terme le : dimanche 4 mars 2018-12:43:33

Dates et versions

inserm-01654096 , version 1 (03-12-2017)

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HAL Id : inserm-01654096 , version 1
DOI : 10.1186/s12958-017-0311-0

Citer

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, 2016, 15 (1), pp.92. ⟨10.1186/s12958-017-0311-0⟩. ⟨inserm-01654096⟩

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