THBD sequence variants potentially related to recurrent pregnancy loss

Paula Quintero-Ronderos; Eric Mercier; Jean-Christophe Gris; Clara Esteban-Perez; Harold Moreno-Ortiz; Dora Janeth Fonseca; Elkin Lucena; Daniel Vaiman; Paul Laissue

doi:10.1186/s12958-017-0311-0

THBD sequence variants potentially related to recurrent pregnancy loss

Paula Quintero-Ronderos
, Eric Mercier
, Jean-Christophe Gris
, Clara Esteban-Perez
, Harold Moreno-Ortiz
, Dora Janeth Fonseca
, Elkin Lucena
, Daniel Vaiman
, Paul Laissue

Research output: Contribution to Journal › Research Article › peer-review

7 Scopus citations

Abstract

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.

Original language	English (US)
Article number	92
Pages (from-to)	1-5
Number of pages	5
Journal	Reproductive Biology and Endocrinology
Volume	15
Issue number	1
DOIs	https://doi.org/10.1186/s12958-017-0311-0
State	Published - Dec 1 2017

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title = "THBD sequence variants potentially related to recurrent pregnancy loss",

abstract = "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.",

author = "Paula Quintero-Ronderos and Eric Mercier and Jean-Christophe Gris and Clara Esteban-Perez and Harold Moreno-Ortiz and Fonseca, \{Dora Janeth\} and Elkin Lucena and Daniel Vaiman and Paul Laissue",

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doi = "10.1186/s12958-017-0311-0",

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TY - JOUR

T1 - THBD sequence variants potentially related to recurrent pregnancy loss

AU - Quintero-Ronderos, Paula

AU - Mercier, Eric

AU - Gris, Jean-Christophe

AU - Esteban-Perez, Clara

AU - Moreno-Ortiz, Harold

AU - Fonseca, Dora Janeth

AU - Lucena, Elkin

AU - Vaiman, Daniel

AU - Laissue, Paul

PY - 2017/12/1

Y1 - 2017/12/1

N2 - 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.

AB - 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.

U2 - 10.1186/s12958-017-0311-0

DO - 10.1186/s12958-017-0311-0

M3 - Research Article

C2 - 29195508

SN - 1477-7827

VL - 15

SP - 1

EP - 5

JO - Reproductive Biology and Endocrinology

JF - Reproductive Biology and Endocrinology

IS - 1

M1 - 92

ER -

THBD sequence variants potentially related to recurrent pregnancy loss

Abstract

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