Laboratory of Genetics, Comparative and Evolutionary Biology, Department of Biochemistry and Biotechnology, University of Thessaly, Viopolis, Mezourlo, 41500 Larissa, Greece.
Laboratory of Biology, Genetics and Bioinformatics, Department of Animal Sciences, University of Thessaly, Gaiopolis, 41336 Larissa, Greece.
Genes (Basel). 2022 Sep 8;13(9):1606. doi: 10.3390/genes13091606.
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.
男性不育是一个全球性的健康问题，影响着全球大量的夫妇。它可以分为特定的亚型，包括畸形精子症。本研究旨在鉴定与希腊人群畸形精子症相关的新变体，并探讨鉴定出的这些变体所涉及的基因的作用。为此，对正常精子症和畸形精子症个体进行了全基因组测序（WGS），并在仅选择在畸形精子症男性中发现的变体后，使用广泛的工具、功能和预测算法等对这些变体进行了进一步的优先级排序。平均鉴定出 600,000 个变体，其中 61 个被表征为高影响，153 个被表征为中影响。其中许多基因映射到以前与男性不育相关的基因中，但也有一些基因与畸形精子症首次相关。此外，通路富集分析和基因本体（GO）分析揭示了细胞外基质在畸形精子症中的重要作用。因此，本研究通过提供与希腊人群畸形精子症相关的变体和候选基因列表，证实了过去研究的基因对男性不育的贡献，并揭示了新的分子机制。
