Systems Biology in Reproductive Medicine最新文献

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Dissecting the shared molecular mechanisms underlying polycystic ovary syndrome and schizophrenia etiology: a translational integrative approach. 剖析多囊卵巢综合征和精神分裂症病因学的共同分子机制:一种翻译综合方法。
IF 2.1 4区 医学
Systems Biology in Reproductive Medicine Pub Date : 2025-12-01 Epub Date: 2025-05-19 DOI: 10.1080/19396368.2025.2499475
Dilek Pirim, Fatih Atilla Bağcı
{"title":"Dissecting the shared molecular mechanisms underlying polycystic ovary syndrome and schizophrenia etiology: a translational integrative approach.","authors":"Dilek Pirim, Fatih Atilla Bağcı","doi":"10.1080/19396368.2025.2499475","DOIUrl":"https://doi.org/10.1080/19396368.2025.2499475","url":null,"abstract":"<p><p>Recent evidence suggests that individuals with polycystic ovary syndrome (PCOS) have an increased risk of developing mental health disorders and comorbidities linked to nervous system dysfunction. Interestingly, patients with schizophrenia (SCZ) often exhibit PCOS symptoms, indicating a possible connection between the two conditions. However, the underlying molecular links between these diseases remain poorly understood. We employed a comprehensive <i>in-silico</i> approach, utilizing publicly available datasets to investigate shared biomarkers candidates and key regulators involved in the development of PCOS and SCZ. We retrieved the datasets from the NCBI GEO database and differentially expressed genes (DEGs) were identified for each dataset. Common DEGs (cDEGs) were determined, and transcription factors (TFs) and miRNA targeting cDEGs were examined using the mirDIP portal and TRRUST database, respectively. We also assessed the TF-miRNA interactions by TransmiR database and constructed a regulatory network including TFs-microRNAs-cDEGs. Our analysis identified a total of 15 cDEGs that are regulated by 15 TFs and 8 mRNAs. Among our findings, we prioritized RELA as a potential TF regulator for both diseases, demonstrating synergistic interaction with four cDEGs (<i>EGR1</i>, <i>CXCL8</i>, <i>IL1RN</i>, <i>IL1B</i>) and seven microRNAs (hsa-miR-580, hsa-miR-5695, hsa-miR-936, hsa-miR-3675, hsa-miR-634, hsa-miR-603, hsa-miR-222) that target these genes. Our data highlights potential common biomarkers for PCOS and SCZ, presenting a novel regulatory network that elucidates the molecular mechanisms underlying both conditions. This emphasizes the importance of further research to explore new translational approaches, which may ultimately lead to improved diagnostic and therapeutic strategies for affected individuals.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"1-12"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Influence of tannin-rich extract from commercial Acacia mearnsii and gallocatechin on ovine cryopreserved semen viability. 商业金合欢富含单宁提取物和没食子儿茶素对绵羊冷冻精液活力的影响。
IF 2.1 4区 医学
Systems Biology in Reproductive Medicine Pub Date : 2025-12-01 Epub Date: 2025-03-14 DOI: 10.1080/19396368.2025.2465260
Mohammed S Liman, Abubeker Hassen, Mario P Smuts, Ahmed D A Biraima, Peter Sutovsky, Lyndy J McGaw, Dietmar E Holm
{"title":"Influence of tannin-rich extract from commercial <i>Acacia mearnsii</i> and gallocatechin on ovine cryopreserved semen viability.","authors":"Mohammed S Liman, Abubeker Hassen, Mario P Smuts, Ahmed D A Biraima, Peter Sutovsky, Lyndy J McGaw, Dietmar E Holm","doi":"10.1080/19396368.2025.2465260","DOIUrl":"10.1080/19396368.2025.2465260","url":null,"abstract":"<p><p>The objective of this study was to evaluate the effect of a tannin-rich extract from commercial <i>Acacia mearnsii</i> (MTE_0), and gallocatechin, a flavonoid compound derived from <i>Acacia mearnsii</i>, on the long-term viability and motility of cryopreserved ovine semen. Six fresh ejaculates obtained from six adult merino rams twice per week for three weeks were allocated to five aliquots (0, 12.5, 25, 50, and 100 µM gallocatechin added into the Optidyl™ extender) before cooling and cryopreservation. Effects of MTE_0 and gallocatechin on post-thawed motility characteristics were analyzed using computer-assisted semen analysis (CASA), and viability (LIVE/DEAD<sup>®</sup> kit, Molecular Invitrogen, Waltham, MA), oxidative stress (2,7-dichlorodihydrofluorescein diacetate (H2DCFDA, Thermo Fisher<sup>®</sup>, Waltham, MA)) for reactive oxygen species (ROS), mitochondrial membrane potential (JC-1 MitoTracker, Molecular Invitrogen, Waltham, MA), acrosomal integrity (lectin PNA), and capacitation using merocyanine 540 (M540) and YO-PRO-1 dyes in flow cytometry. Data were analyzed using one-way ANOVA (IBM SPSS 21.0 for Windows, Armonk, NY). Gallocatechin at 25 µM positively affected (<i>p</i> ≤ .001) kinematic parameters including average path velocity (VAP), progressive velocity (VSL), and beat cross frequency (BCF) of cryopreserved semen. Similarly, gallocatechin at 25 µM<sup>-</sup> improved sperm motility (live 21.99 ± 2.06%), reduced ROS levels (26.45 ± 1.10%), and mitigated premature capacitation (viable and stable 20.08 ± 1.48%) compared to other treatments. Gallocatechin addition to semen resulted in a significant (<i>p</i> ≤ .001) positive effect compared with the MTE_0 extract. It is concluded that gallocatechin inclusion at 25 µM significantly reduces semen deterioration following cryopreservation. This study is the first to introduce gallocatechin as an efficient antioxidant additive to ovine semen to improve its quality during storage. Our findings will help improve post-thaw ovine semen quality and longevity. Future studies to elucidate the mechanism of anti-oxidative stress action of gallocatechin and its derivatives on semen motility and longevity are recommended.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"90-101"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Permeable cryoprotectants-free vitrification of human TESE, PESA and OAT spermatozoa: clinical outcomes. 人类TESE, PESA和OAT精子的无渗透性冷冻保护剂玻璃化:临床结果。
IF 2.1 4区 医学
Systems Biology in Reproductive Medicine Pub Date : 2025-12-01 Epub Date: 2025-02-21 DOI: 10.1080/19396368.2025.2466687
Iryna Kuznyetsova, Sergey I Moskovtsev, Stephanie Ng, Bill Yee, Ayub G M Lulat, Valeriy Kuznyetsov, Clifford L Librach
{"title":"Permeable cryoprotectants-free vitrification of human TESE, PESA and OAT spermatozoa: clinical outcomes.","authors":"Iryna Kuznyetsova, Sergey I Moskovtsev, Stephanie Ng, Bill Yee, Ayub G M Lulat, Valeriy Kuznyetsov, Clifford L Librach","doi":"10.1080/19396368.2025.2466687","DOIUrl":"10.1080/19396368.2025.2466687","url":null,"abstract":"<p><p>Cryopreservation of testicular and epididymal spermatozoa is more challenging in comparison to ejaculated spermatozoa due to lower sperm concentration and motility, and higher sperm sensitivity to cryoprotectants. Sperm vitrification without the use of potentially toxic permeable cryoprotectants is an attractive freezing alternative for testicular and epididymal spermatozoa, as well as oligoasthenoteratozoospermia (OAT) samples. Our study is a retrospective analysis of outcomes in IVF cycles involving a total of 70 testicular, 77 epididymal and 69 ejaculated OAT samples vitrified in a closed double-straw device using mHTF medium supplemented with protein and sucrose, without any permeable cryoprotectant. In total, 71 frozen samples were used for intracytoplasmic sperm injection (ICSI). Results were compared to fresh samples (26 testicular, 53 epididymal and 63 ejaculated OAT samples) that served as controls. Elective single frozen embryo transfers of euploid or unknown-ploidy blastocysts were performed. While sperm motility is expected to diminish following slow sperm freezing and thawing, our data demonstrated that vitrification of testicular, epididymal and OAT samples had a mean motility rate comparable to fresh samples. No statistically significant differences (<i>p</i> > 0.05) were observed between vitrified versus fresh TESE in fertilization (64.1% vs. 59.5%), blastocyst development (54.9% vs. 56.7%), blastocyst euploidy (36.4% vs. 33.3%), clinical pregnancy (47.8% vs. 36.4%) and live birth rates (43.5% vs. 24.2%). Similarly, vitrified versus fresh PESA showed no statistically significant differences (<i>p</i> > 0.05) in the analyzed results respectively: (69.4% vs.74.9%; 62.6% vs. 59.7%; 40.5% vs. 48.1%; 36.0% vs.37.7%; and 32.0% vs. 27.5%). For vitrified OAT samples, there was a significant difference in blastocyst development and euploidy rates when compared to the control group. Our results demonstrate that human testicular, epididymal spermatozoa and samples with OAT can be successfully vitrified in small volumes in a closed system without using any permeable cryoprotectants, allowing utilization of this technique in clinical settings.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"54-60"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel homozygous missense variants in SUN5 and DNAH10 associated with male infertility and oligoasthenoteratozoospermia. SUN5和DNAH10的新型纯合错义变异与男性不育和少弱异卵精子症相关。
IF 2.1 4区 医学
Systems Biology in Reproductive Medicine Pub Date : 2025-12-01 Epub Date: 2025-05-15 DOI: 10.1080/19396368.2025.2500591
Qi Fang, Lanxi Ran, Xinying Bi, Song Liu, Jing Wang, Tengyan Li, Jianyong Di, Ye Liu, Fengqin Xu, Binbin Wang
{"title":"Novel homozygous missense variants in <i>SUN5</i> and <i>DNAH10</i> associated with male infertility and oligoasthenoteratozoospermia.","authors":"Qi Fang, Lanxi Ran, Xinying Bi, Song Liu, Jing Wang, Tengyan Li, Jianyong Di, Ye Liu, Fengqin Xu, Binbin Wang","doi":"10.1080/19396368.2025.2500591","DOIUrl":"10.1080/19396368.2025.2500591","url":null,"abstract":"<p><p>Genetic variants are known causes of male infertility and oligoasthenoteratozoospermia (OAT), as shown by knockout mouse models and patients with infertility. However, most OAT cases lack a definitive genetic diagnosis. Peripheral blood and semen samples were collected from a patient with OAT. Semen analysis, Papanicolaou staining, transmission electron microscopy, whole-exome sequencing (WES), Sanger sequencing, and <i>in silico</i> analyses, such as conservative analysis and conformational analyses, were used to investigate the genetic causes of OAT. Semen analysis revealed a notable reduction in sperm count and motility, and defects in sperm morphology. Light and electron microscopy showed numerous defects in the head-to-tail coupling apparatus of the sperm, and a small number of structural defects in the sperm flagella. WES identified two novel homozygous missense variants <i>SUN5</i>: c.G703A/p.A235T and <i>DNAH10</i>: c.A1436G/p.Q479R. The p.A235T and p.Q479R variants were predicted to generate aberrant SUN5 and DNAH10 proteins using <i>in silico</i> analysis. Here, we report the identification of two novel deleterious variants of <i>SUN5</i> and <i>DNAH10</i> associated with OAT, expanding the mutant spectrum of male infertility.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"190-195"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144080470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SBiRM: future innovation and practice in Personalized and Precision Reproductive Medicine. SBiRM:个性化和精准生殖医学的未来创新与实践。
IF 2.1 4区 医学
Systems Biology in Reproductive Medicine Pub Date : 2025-12-01 Epub Date: 2025-01-24 DOI: 10.1080/19396368.2024.2447691
Stephen A Krawetz, B Charlotte
{"title":"SBiRM: future innovation and practice in Personalized and Precision Reproductive Medicine.","authors":"Stephen A Krawetz, B Charlotte","doi":"10.1080/19396368.2024.2447691","DOIUrl":"https://doi.org/10.1080/19396368.2024.2447691","url":null,"abstract":"","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"1"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Investigation of testis proteome alterations associated with male infertility in Dcaf17-deficient mice. dcaf17缺陷小鼠睾丸蛋白质组改变与男性不育的研究。
IF 2.1 4区 医学
Systems Biology in Reproductive Medicine Pub Date : 2025-12-01 Epub Date: 2025-05-31 DOI: 10.1080/19396368.2025.2504459
Bhavesh Mistry, Ayodele Alaiya, Raed Abu-Dawud, Nadya Alyacoub, Dilek Colak, Mohamed Rajab, Maha Alanazi, Zakia Shinwari, Hala Ahmed, Thuraya Alharbi, Junaid Kashir, Falah Almohanna, Abdullah Assiri
{"title":"Investigation of testis proteome alterations associated with male infertility in <i>Dcaf17</i>-deficient mice.","authors":"Bhavesh Mistry, Ayodele Alaiya, Raed Abu-Dawud, Nadya Alyacoub, Dilek Colak, Mohamed Rajab, Maha Alanazi, Zakia Shinwari, Hala Ahmed, Thuraya Alharbi, Junaid Kashir, Falah Almohanna, Abdullah Assiri","doi":"10.1080/19396368.2025.2504459","DOIUrl":"https://doi.org/10.1080/19396368.2025.2504459","url":null,"abstract":"<p><p>Disruption of <i>Dcaf17</i> in mice resulted in male infertility with severe spermatogenesis defects. To investigate the molecular basis of infertility phenotype, we examined testicular proteomes of wild-type (WT) and <i>Dcaf17<sup>-/-</sup></i> mice using a mass spectrometry-based approach. We identified 727 and 525 differentially expressed proteins (DEPs) in 3- and 8-week old testes of <i>Dcaf17<sup>-/-</sup></i> mice, respectively, with an adjusted p-value cut-off of ≤ 0.05. Among these, 299 and 298 DEPs had fold change of ≥ 1.5 between WT and <i>Dcaf17<sup>-/-</sup></i> testes at -3- and 8-week old, respectively. In the 3-week old <i>Dcaf17<sup>-/-</sup></i> testes, 59.5% of the DEPs were up-regulated, while 40.5% were down-regulated. Similarly, in the 8-week old <i>Dcaf17<sup>-/-</sup></i> testes, 83.9% and 16.1% DEPs were up-regulated and down-regulated, respectively. Functional annotation and network analyses highlighted that many DEPs were associated with key biological processes, including ubiquitination, RNA processing, translation, protein folding, protein stabilization, metabolic processes, oxidation-reduction processes and sper-matogenesis. Subsequent immunohistochemistry and immunoblotting analyses showed higher ubiquitin levels in <i>Dcaf17<sup>-/-</sup></i> testes compared to WT, suggesting potential impairment in ubiquitin proteasome system (UPS) due to DCAF17 loss of function. Our data provide a basis for further work to elucidate the molecular function(s) of DCAF17 in spermatogenesis and male fertility.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"206-228"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic accuracy of plasma microRNA as a potential biomarker for detection of endometriosis. 血浆microRNA作为子宫内膜异位症潜在生物标志物的诊断准确性。
IF 2.1 4区 医学
Systems Biology in Reproductive Medicine Pub Date : 2025-12-01 Epub Date: 2025-03-07 DOI: 10.1080/19396368.2025.2465268
Seyed Danial Mohammadi, Ashraf Moeini, Tayebeh Rastegar, Fardin Amidi, Mojtaba Saffari, Shahrzad Zhaeentan, Setareh Akhavan, Behnaz Moradi, Faezeh Heydarikhah, Nasrin Takzare
{"title":"Diagnostic accuracy of plasma microRNA as a potential biomarker for detection of endometriosis.","authors":"Seyed Danial Mohammadi, Ashraf Moeini, Tayebeh Rastegar, Fardin Amidi, Mojtaba Saffari, Shahrzad Zhaeentan, Setareh Akhavan, Behnaz Moradi, Faezeh Heydarikhah, Nasrin Takzare","doi":"10.1080/19396368.2025.2465268","DOIUrl":"10.1080/19396368.2025.2465268","url":null,"abstract":"<p><p>Endometriosis is a complex condition with a wide range of clinical manifestations, presenting significant challenges, particularly for young women. Its diverse and often perplexing presentations pose difficulties within the medical community. Laparoscopy remains the gold-standard diagnostic tool for endometriosis. However, alternative diagnostic methods are valuable for monitoring disease progression, assessing the likelihood of recurrence, reducing the need for surgical procedures, and facilitating timely decisions regarding fertility concerns. Recent research highlights the potential of microRNAs (miRNAs) as an alternative diagnostic test for endometriosis. A case-control study was conducted at the infertility unit of Arash Women's Hospital, involving 50 female participants, 25 with endometriosis and 25 without it. Plasma samples were collected and analyzed for the expression levels of 16 miRNAs using quantitative reverse transcription polymerase chain reaction (qRT-PCR). Diagnostic accuracy measures were evaluated to establish a reliable and comparable diagnostic framework. Compared to the control group, downregulation of 11 miRNAs and upregulation of 5 miRNAs were observed in the case group. Regarding expression patterns, evidence from this study indicates that half of the evaluated miRNAs fall into the high-agreement category with similar studies. Sensitivity (SN) of the evaluated miRNAs ranged from 64.0% to 88.0%, while specificity (SP) ranged from 56.0% to 88.0%. The area under the curve (AUC) was reported between 0.619 (miR-135a) and 0.846 (miR-340). These findings suggest that the evaluated miRNAs demonstrate moderate to acceptable diagnostic accuracy for endometriosis.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"61-75"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143575988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fetal macrosomia and placental expression of fibroblast growth factor 21 and peroxisome proliferator-activated receptor alpha. 胎儿巨大症与胎盘成纤维细胞生长因子21和过氧化物酶体增殖物激活受体α的表达。
IF 2.1 4区 医学
Systems Biology in Reproductive Medicine Pub Date : 2025-12-01 Epub Date: 2025-05-24 DOI: 10.1080/19396368.2025.2504450
Rachel K Harrison, Katherine Allen, Aaron Naatz, John Corbett, Jennifer McIntosh, Meredith Cruz
{"title":"Fetal macrosomia and placental expression of fibroblast growth factor 21 and peroxisome proliferator-activated receptor alpha.","authors":"Rachel K Harrison, Katherine Allen, Aaron Naatz, John Corbett, Jennifer McIntosh, Meredith Cruz","doi":"10.1080/19396368.2025.2504450","DOIUrl":"https://doi.org/10.1080/19396368.2025.2504450","url":null,"abstract":"<p><p>Macrosomia (birth weight >4000 g) is a product of endocrine dysfunction in utero leading to fetal overgrowth and can lead to maternal and infant morbidity. Fibroblast growth factor 21 (FGF21) and its transcription factor, peroxisome proliferator-activated receptor alpha (PPARα), are found in the placenta and are associated with abnormal metabolic states. Their relationship to the placental dysregulation that leads to macrosomia is unknown. We sought to evaluate the relationship between protein expression of FGF21 and PPARα in placental samples from infants with macrosomia compared to controls (<4000 g) on both the maternal and fetal sides of the placenta. Placental specimens were collected at the time of delivery and protein levels of FGF21 and PPARα were quantified <i>via</i> Western Blot analysis and normalized to GAPDH. Student's <i>t</i>-test, Wilcoxon-Mann-Whitney test, Fisher's exact test, Chi-squared analysis, and Spearman's correlation were used for statistical analyses. Baseline characteristics were similar across both groups. FGF21 and PPARα levels on the maternal side of the placenta did not differ based on presence of macrosomia. PPARα expression was statistically significantly lower on the fetal side in infants with macrosomia. In controls alone, FGF21 and PPARα trended lower on the maternal side compared to the fetal side although this was not statistically significant. PPARα and FGF21 were positively correlated throughout the placenta. We found that lower PPARα expression on the fetal side of placenta was noted in infants with macrosomia, identifying a possible contribution to the growth discrepancy in this group. PPARα and FGF21 are strongly correlated in the human placenta.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"196-205"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of candidate genes for endometrial cancer in multi-omics: a Mendelian randomization analysis. 多组学中子宫内膜癌候选基因的鉴定:孟德尔随机分析。
IF 2.1 4区 医学
Systems Biology in Reproductive Medicine Pub Date : 2024-12-01 Epub Date: 2024-10-14 DOI: 10.1080/19396368.2024.2411458
Lan-Hui Qin, Chongze Yang, Rui Song, Pei-Yin Chen, Zijian Jiang, Weihui Xu, Guanzhen Zeng, Jin-Yuan Liao, Liling Long
{"title":"Identification of candidate genes for endometrial cancer in multi-omics: a Mendelian randomization analysis.","authors":"Lan-Hui Qin, Chongze Yang, Rui Song, Pei-Yin Chen, Zijian Jiang, Weihui Xu, Guanzhen Zeng, Jin-Yuan Liao, Liling Long","doi":"10.1080/19396368.2024.2411458","DOIUrl":"https://doi.org/10.1080/19396368.2024.2411458","url":null,"abstract":"<p><p>Endometrial cancer is the most common malignant tumor of the uterus, but the underlying genetic mechanisms of EC remain unclear. To identify candidate genes and investigate genetic mechanisms for endometrial cancer, we utilized the summary-data-based Mendelian randomization (SMR) method to investigate causal associations between genetic variants, gene expression, DNA methylation, and endometrial cancer. Three main analyses were conducted utilizing cis-expression and methylation quantitative trait loci (eQTLs and mQTLs) as instrumental variables to examine causal relationships with endometrial cancer, and assessing the causal relationship between DNA methylation and gene expression. Data sources included genetic association data from O'Mara et al. eQTL data from the GTEx database, and mQTL data from McRae et al. Analysis involved the HEIDI test to distinguish pleiotropy, SMR analysis with multiple testing correction, and colocalization analysis to assess associations driven by linkage disequilibrium. Functional enrichment analysis was performed by the Metascape tool. Our study showed that three genes, SNX11, LINC00243, and EVI2A, were identified as causally related to endometrial cancer. SNX11 exhibited a positive causal relationship, while LINC00243 and EVI2A showed negative ones. Furthermore, 24 CpG sites were identified as causally related to endometrial cancer, with cg14424631 (CYP19A1) being the most significant. The study revealed common genes implicated in endometrial cancer, gene expression, and methylation sites, with LINC00243 playing a key role. Colocalization analysis confirmed significant causal relationships between LINC00243, SNX11, and endometrial cancer. Enrichment analysis uncovered pathways like interferon gamma signaling enriched in both endometrial cancer GWAS and e/mQTL. These findings shed light on the molecular mechanisms underlying endometrial cancer development. The study identified candidate genes and DNA methylation loci causally associated with endometrial cancer, which are expected to serve as potential targets for treatment.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"70 1","pages":"299-311"},"PeriodicalIF":2.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Classification of idiopathic recurrent spontaneous miscarriage using FTIR and Raman spectroscopic fusion technology. 利用傅立叶变换红外光谱和拉曼光谱融合技术对特发性复发性自然流产进行分类。
IF 2.1 4区 医学
Systems Biology in Reproductive Medicine Pub Date : 2024-12-01 Epub Date: 2024-08-16 DOI: 10.1080/19396368.2024.2384386
Dadoma Sherpa, Chiranjib Bhowmick, Tummala Pavan, Dhruva Abhijit Rajwade, Sumana Halder, Imon Mitra, Sunita Sharma, Pratip Chakraborty, Sanjukta Dasgupta, Koel Chaudhury
{"title":"Classification of idiopathic recurrent spontaneous miscarriage using FTIR and Raman spectroscopic fusion technology.","authors":"Dadoma Sherpa, Chiranjib Bhowmick, Tummala Pavan, Dhruva Abhijit Rajwade, Sumana Halder, Imon Mitra, Sunita Sharma, Pratip Chakraborty, Sanjukta Dasgupta, Koel Chaudhury","doi":"10.1080/19396368.2024.2384386","DOIUrl":"https://doi.org/10.1080/19396368.2024.2384386","url":null,"abstract":"<p><p>Recurrent spontaneous miscarriage refers to the repeated loss of two or more clinically detected pregnancies occurring within 24 weeks of gestation. No identifiable cause has been identified for nearly 50% of these cases. This group is referred to as idiopathic recurrent spontaneous miscarriage (IRSM) or miscarriage of unknown origin. Due to lack of robust scientific evidence, guidelines on the diagnosis and management of IRSM are not well defined and often contradictory. This motivates us to explore the vibrational fingerprints of endometrial tissue in these women. Endometrial tissues were collected from women undergoing IRSM (<i>n</i> = 20) and controls (<i>n</i> = 20) corresponding to the window of implantation. Attenuated total reflectance-Fourier transform infrared (ATR-FTIR) spectra were obtained within the range of 400-4000 cm<sup>-1</sup> using Agilent Cary 630 FTIR spectrometer. Raman spectra were also generated within the spectral window of 400-4000 cm<sup>-1</sup> using Thermo Fisher Scientific, DXR Raman spectrophotometer. Based on the limited molecular information provided by a single spectroscopic tool, fusion strategy combining Raman and ATR-FTIR spectroscopic data of IRSM is proposed. The significant features were extracted applying principal component analysis (PCA) and wavelet threshold denoising (WTD) and fused spectral data used as input into support vector machine (SVM), adaptive boosting (AdaBoost) and decision tree (DT) models. Altered molecular vibrations associated with proteins, glutamate, and lipid metabolism were observed in IRSM using Raman spectroscopy. FTIR analysis indicated changes in the molecular vibrations of lipids and proteins, collagen dysregulation and impaired glucose metabolism. Combination of both spectroscopic data using mid-level fusion (MLF: 92% using AdaBoost and DT models) and high-level fusion (HLF: 92% using SVM models) methods showed improved IRSM classification accuracy as compared to individual spectral models. Our results indicate that spectral fusion technology hold promise in enhancing diagnostic accuracy of IRSM in clinical settings. Validation of these findings in a larger patient population is underway.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"70 1","pages":"228-239"},"PeriodicalIF":2.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141992389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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