A systematic review on the genetics of male infertility in the era of next-generation sequencing

Objectives: To identify the role of next-generation sequencing (NGS) in male infertility, as advances in NGS technologies have contributed to the identification of novel genes responsible for a wide variety of human conditions and recently has been applied to male infertility, allowing new genetic f...

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Autores principales:	Amal Robay, Saleha Abbasi, Ammira Akil, Haitham El-Bardisi, Mohamed Arafa, Ronald G. Crystal, Khalid A. Fakhro
Formato:	article
Lenguaje:	EN
Publicado:	Taylor & Francis Group 2018
Materias:	Diseases of the genitourinary system. Urology RC870-923
Acceso en línea:	https://doaj.org/article/b068126500bb4882b540e13bf7f6f4e7
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spelling	oai:doaj.org-article:b068126500bb4882b540e13bf7f6f4e72021-12-02T08:22:58ZA systematic review on the genetics of male infertility in the era of next-generation sequencing2090-598X10.1016/j.aju.2017.12.003https://doaj.org/article/b068126500bb4882b540e13bf7f6f4e72018-03-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2090598X18300056https://doaj.org/toc/2090-598XObjectives: To identify the role of next-generation sequencing (NGS) in male infertility, as advances in NGS technologies have contributed to the identification of novel genes responsible for a wide variety of human conditions and recently has been applied to male infertility, allowing new genetic factors to be discovered. Materials and methods: PubMed was searched for combinations of the following terms: ‘exome’, ‘genome’, ‘panel’, ‘sequencing’, ‘whole-exome sequencing’, ‘whole-genome sequencing’, ‘next-generation sequencing’, ‘azoospermia’, ‘oligospermia’, ‘asthenospermia’, ‘teratospermia’, ‘spermatogenesis’, and ‘male infertility’, to identify studies in which NGS technologies were used to discover variants causing male infertility. Results: Altogether, 23 studies were found in which the primary mode of variant discovery was an NGS-based technology. These studies were mostly focused on patients with quantitative sperm abnormalities (non-obstructive azoospermia and oligospermia), followed by morphological and motility defects. Combined, these studies uncover variants in 28 genes causing male infertility discovered by NGS methods. Conclusions: Male infertility is a condition that is genetically heterogeneous, and therefore remarkably amenable to study by NGS. Although some headway has been made, given the high incidence of this condition despite its detrimental effect on reproductive fitness, there is significant potential for further discoveries. Keywords: Male infertility, Next-generation sequencing, Genome-wide association studyAmal RobaySaleha AbbasiAmmira AkilHaitham El-BardisiMohamed ArafaRonald G. CrystalKhalid A. FakhroTaylor & Francis GrouparticleDiseases of the genitourinary system. UrologyRC870-923ENArab Journal of Urology, Vol 16, Iss 1, Pp 53-64 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the genitourinary system. Urology RC870-923
spellingShingle	Diseases of the genitourinary system. Urology RC870-923 Amal Robay Saleha Abbasi Ammira Akil Haitham El-Bardisi Mohamed Arafa Ronald G. Crystal Khalid A. Fakhro A systematic review on the genetics of male infertility in the era of next-generation sequencing
description	Objectives: To identify the role of next-generation sequencing (NGS) in male infertility, as advances in NGS technologies have contributed to the identification of novel genes responsible for a wide variety of human conditions and recently has been applied to male infertility, allowing new genetic factors to be discovered. Materials and methods: PubMed was searched for combinations of the following terms: ‘exome’, ‘genome’, ‘panel’, ‘sequencing’, ‘whole-exome sequencing’, ‘whole-genome sequencing’, ‘next-generation sequencing’, ‘azoospermia’, ‘oligospermia’, ‘asthenospermia’, ‘teratospermia’, ‘spermatogenesis’, and ‘male infertility’, to identify studies in which NGS technologies were used to discover variants causing male infertility. Results: Altogether, 23 studies were found in which the primary mode of variant discovery was an NGS-based technology. These studies were mostly focused on patients with quantitative sperm abnormalities (non-obstructive azoospermia and oligospermia), followed by morphological and motility defects. Combined, these studies uncover variants in 28 genes causing male infertility discovered by NGS methods. Conclusions: Male infertility is a condition that is genetically heterogeneous, and therefore remarkably amenable to study by NGS. Although some headway has been made, given the high incidence of this condition despite its detrimental effect on reproductive fitness, there is significant potential for further discoveries. Keywords: Male infertility, Next-generation sequencing, Genome-wide association study
format	article
author	Amal Robay Saleha Abbasi Ammira Akil Haitham El-Bardisi Mohamed Arafa Ronald G. Crystal Khalid A. Fakhro
author_facet	Amal Robay Saleha Abbasi Ammira Akil Haitham El-Bardisi Mohamed Arafa Ronald G. Crystal Khalid A. Fakhro
author_sort	Amal Robay
title	A systematic review on the genetics of male infertility in the era of next-generation sequencing
title_short	A systematic review on the genetics of male infertility in the era of next-generation sequencing
title_full	A systematic review on the genetics of male infertility in the era of next-generation sequencing
title_fullStr	A systematic review on the genetics of male infertility in the era of next-generation sequencing
title_full_unstemmed	A systematic review on the genetics of male infertility in the era of next-generation sequencing
title_sort	systematic review on the genetics of male infertility in the era of next-generation sequencing
publisher	Taylor & Francis Group
publishDate	2018
url	https://doaj.org/article/b068126500bb4882b540e13bf7f6f4e7
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A systematic review on the genetics of male infertility in the era of next-generation sequencing

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