Studies have attributed 50% of infertility cases to male infertility, 15% of which is caused by idiopathic genetic factors. Currently, no specific biomarkers have been revealed for male infertility. Furthermore, research on genetic factors causing male infertility is still limited. As with other multifactorial genetic disorders, numerous risk loci for male infertility have been identified by genome-wide association studies (GWAS), although their clinical significance remains uncertain. Therefore, we utilized an integrative bioinformatics-based approach to identify biomarkers for male infertility. Bioinformatics analysis was performed using Open Targets Platform, DisGeNet, and GWAS Catalog. After that, the STRING database and the Cytoscape program were used to analyze protein–protein interaction. CytoHubba was used to determine the most significant gene candidates. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses were used to assess biological functions that correspond to the male infertility disease pathway. We identified 305 genes associated with male infertility and highlighted 10 biological risk genes as potential biomarkers for male infertility such as TEX11, SPO11, SYCP3, HORMAD1, STAG3, MSH4, SYCP2, SYCE1, RAD21L1, and AMH. Of all the genes, we took the top three genes, namely, TEX11, SPO11, and SYCP3 as the genes that have the most potential as biomarkers. TEX11, SPO11, and SYCP3 are involved in meiosis and spermatogenesis. We propose that further research in regarding these genes in detecting male infertility.

中文翻译：

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男性不育症的潜在生物标志物特征：综合基因组分析

研究将50%的不育病例归因于男性不育，其中15%是由特发性遗传因素引起。目前，尚未发现男性不育症的具体生物标志物。此外，对导致男性不育的遗传因素的研究仍然有限。与其他多因素遗传性疾病一样，全基因组关联研究 (GWAS) 已确定了许多男性不育的风险位点，但其临床意义仍不确定。因此，我们利用基于综合生物信息学的方法来识别男性不育症的生物标志物。使用 Open Targets Platform、DisGeNet 和 GWAS Catalog 进行生物信息学分析。之后，使用STRING数据库和Cytoscape程序来分析蛋白质-蛋白质相互作用。 CytoHubba 用于确定最重要的候选基因。使用基因本体论和京都基因和基因组百科全书途径分析来评估与男性不育疾病途径相对应的生物学功能。我们鉴定了 305 个与男性不育相关的基因，并重点介绍了 10 个生物风险基因作为男性不育的潜在生物标志物，例如 TEX11、SPO11、SYCP3、HORMAD1、STAG3、MSH4、SYCP2、SYCE1、RAD21L1 和 AMH。在所有基因中，我们将排名前三的基因，即TEX11、SPO11和SYCP3作为最有潜力作为生物标志物的基因。 TEX11、SPO11 和 SYCP3 参与减数分裂和精子发生。我们建议进一步研究这些基因在检测男性不育方面的作用。