THBD sequence variants potentially related to recurrent pregnancy loss

Recurrent 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. © 2017 The Author(s).

• Fecha de publicación: 2017
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/22921
• Acceso en línea: https://doi.org/10.1186/s12958-017-0311-0; https://repository.urosario.edu.co/handle/10336/22921
• Palabra clave: Adult; Article; Caucasian; Controlled study; Female; Gene; Gene frequency; Gene mutation; Gene sequence; Human; Major clinical study; Mestizo; Polymerase chain reaction; Pregnancy disorder; Recurrent pregnancy loss; Single nucleotide polymorphism; Spontaneous abortion; Thbd gene; Biology; Case control study; Gene frequency; Genetic database; Genetic predisposition; Genetic variation; Genetics; Pregnancy; Recurrent abortion; Single nucleotide polymorphism; Thrombomodulin; Adult; Case-control studies; Computational biology; Female; Gene frequency; Genetic predisposition to disease; Genetic variation; Humans; Pregnancy; Thrombomodulin; Female infertility; Molecular marker; Recurrent pregnancy loss; Thbd; single nucleotide; human; habitual; genetic; Thbd protein; Abortion; Databases; Polymorphism
• License: Abierto (Texto Completo)