Vista Equipo: Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches

Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches

Recurrent pregnancy loss (RPL) affects up to 5% of couples. It is believed that genetic factors contribute to the disease’s etiology and pathophysiology. Hundreds of genes represent coherent RPL candidates due to mammalian implantation’s inherent complexity. Sanger sequencing (direct sequencing) of...

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Autores Principales:	Quintero-Ronderos P., Laissue P.
Formato:	Artículo (Article)
Lenguaje:	Inglés (English)
Publicado:	SAGE Publications Inc. 2019
Materias:	Miscarriage Molecular implantation Next generation sequencing Recurrent pregnancy loss
Acceso en línea:	https://repository.urosario.edu.co/handle/10336/22925 https://doi.org/10.1177/1933719119831769

id	ir-10336-22925
recordtype	dspace
spelling	ir-10336-229252022-05-02T12:37:14Z Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches Quintero-Ronderos P. Laissue P. Miscarriage Molecular implantation Next generation sequencing Recurrent pregnancy loss Recurrent pregnancy loss (RPL) affects up to 5% of couples. It is believed that genetic factors contribute to the disease’s etiology and pathophysiology. Hundreds of genes represent coherent RPL candidates due to mammalian implantation’s inherent complexity. Sanger sequencing (direct sequencing) of candidate genes has identified potential RPL causative genes (and variants), including those regulating embryo implantation and pregnancy maintenance. Although this approach is a reliable technique, the simultaneous analysis of large genomic regions is challenging. Next-generation sequencing (NGS) technology has thus emerged as a useful alternative for determining genetic variants and transcriptomic disturbances contributing to monogenic and polygenic diseases pathogenesis. However, interpreting results remains challenging as NGS experiments provide an enormous amount of complex data. The molecular aspects of specific diseases must be fully understood for accurate interpretation of NGS data. This review was thus aimed at describing (for the first time) the most relevant studies involving Sanger and NGS sequencing, leading to the description of variants related to RPL pathogenesis. Successful RPL-related NGS initiatives (including RNAseq-based studies) and future challenges are discussed. We consider that the information given here should be useful for clinicians, scientists, and students to enable a better understanding of RPL etiology. It may also provide a basis for the development of diagnostic/prognostic approaches contributing toward translational medicine. © The Author(s) 2019. 2019 2020-05-25T23:58:45Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 19337191 https://repository.urosario.edu.co/handle/10336/22925 https://doi.org/10.1177/1933719119831769 eng info:eu-repo/semantics/openAccess application/pdf SAGE Publications Inc. instname:Universidad del Rosario
institution	EdocUR - Universidad del Rosario
collection	DSpace
language	Inglés (English)
topic	Miscarriage Molecular implantation Next generation sequencing Recurrent pregnancy loss
spellingShingle	Miscarriage Molecular implantation Next generation sequencing Recurrent pregnancy loss Quintero-Ronderos P. Laissue P. Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches
description	Recurrent pregnancy loss (RPL) affects up to 5% of couples. It is believed that genetic factors contribute to the disease’s etiology and pathophysiology. Hundreds of genes represent coherent RPL candidates due to mammalian implantation’s inherent complexity. Sanger sequencing (direct sequencing) of candidate genes has identified potential RPL causative genes (and variants), including those regulating embryo implantation and pregnancy maintenance. Although this approach is a reliable technique, the simultaneous analysis of large genomic regions is challenging. Next-generation sequencing (NGS) technology has thus emerged as a useful alternative for determining genetic variants and transcriptomic disturbances contributing to monogenic and polygenic diseases pathogenesis. However, interpreting results remains challenging as NGS experiments provide an enormous amount of complex data. The molecular aspects of specific diseases must be fully understood for accurate interpretation of NGS data. This review was thus aimed at describing (for the first time) the most relevant studies involving Sanger and NGS sequencing, leading to the description of variants related to RPL pathogenesis. Successful RPL-related NGS initiatives (including RNAseq-based studies) and future challenges are discussed. We consider that the information given here should be useful for clinicians, scientists, and students to enable a better understanding of RPL etiology. It may also provide a basis for the development of diagnostic/prognostic approaches contributing toward translational medicine. © The Author(s) 2019.
format	Artículo (Article)
author	Quintero-Ronderos P. Laissue P.
author_facet	Quintero-Ronderos P. Laissue P.
author_sort	Quintero-Ronderos P.
title	Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches
title_short	Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches
title_full	Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches
title_fullStr	Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches
title_full_unstemmed	Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches
title_sort	genetic variants contributing to early recurrent pregnancy loss etiology identified by sequencing approaches
publisher	SAGE Publications Inc.
publishDate	2019
url	https://repository.urosario.edu.co/handle/10336/22925 https://doi.org/10.1177/1933719119831769
_version_	1740172640518144000
score	12,131701

Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches

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