{"title":"剖析异常精子参数与抑郁症之间的遗传关联：对157名参与者的转录组分析。","authors":"Yinwei Chen, Taotao Sun, Penghui Yuan, Chang Liu","doi":"10.1007/s10815-025-03470-0","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Depression often occurs in the males with semen abnormalities. Evidence suggested a genetic correlation between depression and the pathogenesis of abnormal sperm parameters, whereas the mechanisms remained unclear.</p><p><strong>Methods: </strong>Genomic datasets of major depressive disorder (MDD) and abnormal sperm parameters were obtained from the Gene Expression Omnibus database. After screening the datasets, differentially expressed genes (DEGs) were identified. GO and pathway enrichment analyses, a protein-protein interaction network, and receiver operator characteristic curve analysis were conducted. Then, MDD-related DEGs (MDRGs), the external validation, immunological, and translational regulation analysis were performed. Moreover, tissue expression of MDRGs was explored.</p><p><strong>Results: </strong>A total of 249 overlapped MDRGs were discovered in the MDD and abnormal sperm parameters gene sets. MDRGs had a tight relationship with adhesion-associated and PI3 K-Akt-associated biological signaling. The protein-protein interaction module showed the enriched pathways involved in neuron differentiation and cell adhesion. Drug prediction revealed ten pharmacologic candidates. Finally, two hub MDRGs were identified and validated with good diagnostic values. Immunological and translational results showed three closely correlated kinds of CD8 + T lymphocytes, neutrophils, and macrophages, 19 transcription factor-MDRGs, and 71 miRNA-MDRGs interactions. Furthermore, expression signatures of Carnosine Dipeptidase 2 (CNDP2) and Galectin 3 Binding Protein (LGALS3BP) were displayed in cortex and testis.</p><p><strong>Conclusion: </strong>Our study discovered the genetic profiles in abnormal sperm parameters and MDD and elucidated enriched pathways and molecular associations between hub genes and immune infiltration. These findings provide novel insights into the common pathogenesis of both diseases as well as the potential biomarkers for MDD-associated abnormal sperm parameters.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"2003-2017"},"PeriodicalIF":2.7000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12229347/pdf/","citationCount":"0","resultStr":"{\"title\":\"Dissecting the genetic association between abnormal sperm parameters and depression: a transcriptome-wide analysis of 157 participants.\",\"authors\":\"Yinwei Chen, Taotao Sun, Penghui Yuan, Chang Liu\",\"doi\":\"10.1007/s10815-025-03470-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>Depression often occurs in the males with semen abnormalities. Evidence suggested a genetic correlation between depression and the pathogenesis of abnormal sperm parameters, whereas the mechanisms remained unclear.</p><p><strong>Methods: </strong>Genomic datasets of major depressive disorder (MDD) and abnormal sperm parameters were obtained from the Gene Expression Omnibus database. After screening the datasets, differentially expressed genes (DEGs) were identified. GO and pathway enrichment analyses, a protein-protein interaction network, and receiver operator characteristic curve analysis were conducted. Then, MDD-related DEGs (MDRGs), the external validation, immunological, and translational regulation analysis were performed. Moreover, tissue expression of MDRGs was explored.</p><p><strong>Results: </strong>A total of 249 overlapped MDRGs were discovered in the MDD and abnormal sperm parameters gene sets. MDRGs had a tight relationship with adhesion-associated and PI3 K-Akt-associated biological signaling. The protein-protein interaction module showed the enriched pathways involved in neuron differentiation and cell adhesion. Drug prediction revealed ten pharmacologic candidates. Finally, two hub MDRGs were identified and validated with good diagnostic values. Immunological and translational results showed three closely correlated kinds of CD8 + T lymphocytes, neutrophils, and macrophages, 19 transcription factor-MDRGs, and 71 miRNA-MDRGs interactions. Furthermore, expression signatures of Carnosine Dipeptidase 2 (CNDP2) and Galectin 3 Binding Protein (LGALS3BP) were displayed in cortex and testis.</p><p><strong>Conclusion: </strong>Our study discovered the genetic profiles in abnormal sperm parameters and MDD and elucidated enriched pathways and molecular associations between hub genes and immune infiltration. These findings provide novel insights into the common pathogenesis of both diseases as well as the potential biomarkers for MDD-associated abnormal sperm parameters.</p>\",\"PeriodicalId\":15246,\"journal\":{\"name\":\"Journal of Assisted Reproduction and Genetics\",\"volume\":\" \",\"pages\":\"2003-2017\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12229347/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Assisted Reproduction and Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10815-025-03470-0\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/4/22 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Assisted Reproduction and Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10815-025-03470-0","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/22 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Dissecting the genetic association between abnormal sperm parameters and depression: a transcriptome-wide analysis of 157 participants.
Purpose: Depression often occurs in the males with semen abnormalities. Evidence suggested a genetic correlation between depression and the pathogenesis of abnormal sperm parameters, whereas the mechanisms remained unclear.
Methods: Genomic datasets of major depressive disorder (MDD) and abnormal sperm parameters were obtained from the Gene Expression Omnibus database. After screening the datasets, differentially expressed genes (DEGs) were identified. GO and pathway enrichment analyses, a protein-protein interaction network, and receiver operator characteristic curve analysis were conducted. Then, MDD-related DEGs (MDRGs), the external validation, immunological, and translational regulation analysis were performed. Moreover, tissue expression of MDRGs was explored.
Results: A total of 249 overlapped MDRGs were discovered in the MDD and abnormal sperm parameters gene sets. MDRGs had a tight relationship with adhesion-associated and PI3 K-Akt-associated biological signaling. The protein-protein interaction module showed the enriched pathways involved in neuron differentiation and cell adhesion. Drug prediction revealed ten pharmacologic candidates. Finally, two hub MDRGs were identified and validated with good diagnostic values. Immunological and translational results showed three closely correlated kinds of CD8 + T lymphocytes, neutrophils, and macrophages, 19 transcription factor-MDRGs, and 71 miRNA-MDRGs interactions. Furthermore, expression signatures of Carnosine Dipeptidase 2 (CNDP2) and Galectin 3 Binding Protein (LGALS3BP) were displayed in cortex and testis.
Conclusion: Our study discovered the genetic profiles in abnormal sperm parameters and MDD and elucidated enriched pathways and molecular associations between hub genes and immune infiltration. These findings provide novel insights into the common pathogenesis of both diseases as well as the potential biomarkers for MDD-associated abnormal sperm parameters.
期刊介绍：
The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species.
The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
