Whole-Genome Profile of Greek Patients with Teratozοοspermia: Identification of Candidate Variants and Genes
Male infertility is a global health problem that affects a large number of couples worldwide. It can be categorized into specific subtypes, including teratozoospermia. The present study aimed to identify new variants associated with teratozoospermia in the Greek population and to explore the role of...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-09-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/9/1606 |
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| author | Maria-Anna Kyrgiafini Themistoklis Giannoulis Alexia Chatziparasidou Nikolaos Christoforidis Zissis Mamuris |
| author_facet | Maria-Anna Kyrgiafini Themistoklis Giannoulis Alexia Chatziparasidou Nikolaos Christoforidis Zissis Mamuris |
| author_sort | Maria-Anna Kyrgiafini |
| collection | DOAJ |
| description | Male infertility is a global health problem that affects a large number of couples worldwide. It can be categorized into specific subtypes, including teratozoospermia. The present study aimed to identify new variants associated with teratozoospermia in the Greek population and to explore the role of genes on which these were identified. For this reason, whole-genome sequencing (WGS) was performed on normozoospermic and teratozoospermic individuals, and after selecting only variants found in teratozoospermic men, these were further prioritized using a wide range of tools, functional and predictive algorithms, etc. An average of 600,000 variants were identified, and of them, 61 were characterized as high impact and 153 as moderate impact. Many of these are mapped in genes previously associated with male infertility, yet others are related for the first time to teratozoospermia. Furthermore, pathway enrichment analysis and Gene ontology (GO) analyses revealed the important role of the extracellular matrix in teratozoospermia. Therefore, the present study confirms the contribution of genes studied in the past to male infertility and sheds light on new molecular mechanisms by providing a list of variants and candidate genes associated with teratozoospermia in the Greek population. |
| first_indexed | 2024-03-09T23:56:23Z |
| format | Article |
| id | doaj.art-54d932ccbcc442fe8375494d41d5d8c7 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T23:56:23Z |
| publishDate | 2022-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-54d932ccbcc442fe8375494d41d5d8c72023-11-23T16:24:59ZengMDPI AGGenes2073-44252022-09-01139160610.3390/genes13091606Whole-Genome Profile of Greek Patients with Teratozοοspermia: Identification of Candidate Variants and GenesMaria-Anna Kyrgiafini0Themistoklis Giannoulis1Alexia Chatziparasidou2Nikolaos Christoforidis3Zissis Mamuris4Laboratory of Genetics, Comparative and Evolutionary Biology, Department of Biochemistry and Biotechnology, University of Thessaly, Viopolis, Mezourlo, 41500 Larissa, GreeceLaboratory of Biology, Genetics and Bioinformatics, Department of Animal Sciences, University of Thessaly, Gaiopolis, 41336 Larissa, GreeceEmbryolab IVF Unit, St. 173-175 Ethnikis Antistaseos, Kalamaria, 55134 Thessaloniki, GreeceEmbryolab IVF Unit, St. 173-175 Ethnikis Antistaseos, Kalamaria, 55134 Thessaloniki, GreeceLaboratory of Genetics, Comparative and Evolutionary Biology, Department of Biochemistry and Biotechnology, University of Thessaly, Viopolis, Mezourlo, 41500 Larissa, GreeceMale infertility is a global health problem that affects a large number of couples worldwide. It can be categorized into specific subtypes, including teratozoospermia. The present study aimed to identify new variants associated with teratozoospermia in the Greek population and to explore the role of genes on which these were identified. For this reason, whole-genome sequencing (WGS) was performed on normozoospermic and teratozoospermic individuals, and after selecting only variants found in teratozoospermic men, these were further prioritized using a wide range of tools, functional and predictive algorithms, etc. An average of 600,000 variants were identified, and of them, 61 were characterized as high impact and 153 as moderate impact. Many of these are mapped in genes previously associated with male infertility, yet others are related for the first time to teratozoospermia. Furthermore, pathway enrichment analysis and Gene ontology (GO) analyses revealed the important role of the extracellular matrix in teratozoospermia. Therefore, the present study confirms the contribution of genes studied in the past to male infertility and sheds light on new molecular mechanisms by providing a list of variants and candidate genes associated with teratozoospermia in the Greek population.https://www.mdpi.com/2073-4425/13/9/1606teratozoospermiamale infertilitywhole-genome sequencing (WGS)next-generation sequencingGreece |
| spellingShingle | Maria-Anna Kyrgiafini Themistoklis Giannoulis Alexia Chatziparasidou Nikolaos Christoforidis Zissis Mamuris Whole-Genome Profile of Greek Patients with Teratozοοspermia: Identification of Candidate Variants and Genes Genes teratozoospermia male infertility whole-genome sequencing (WGS) next-generation sequencing Greece |
| title | Whole-Genome Profile of Greek Patients with Teratozοοspermia: Identification of Candidate Variants and Genes |
| title_full | Whole-Genome Profile of Greek Patients with Teratozοοspermia: Identification of Candidate Variants and Genes |
| title_fullStr | Whole-Genome Profile of Greek Patients with Teratozοοspermia: Identification of Candidate Variants and Genes |
| title_full_unstemmed | Whole-Genome Profile of Greek Patients with Teratozοοspermia: Identification of Candidate Variants and Genes |
| title_short | Whole-Genome Profile of Greek Patients with Teratozοοspermia: Identification of Candidate Variants and Genes |
| title_sort | whole genome profile of greek patients with teratozοοspermia identification of candidate variants and genes |
| topic | teratozoospermia male infertility whole-genome sequencing (WGS) next-generation sequencing Greece |
| url | https://www.mdpi.com/2073-4425/13/9/1606 |
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