Reproduction, fertility, and development最新文献

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'Vanishing twin syndrome' following frozen embryo transfer has no detrimental effects on offspring growth and development up to 3 years. 冷冻胚胎移植后的“消失双胞胎综合征”在3年内对后代的生长发育没有不利影响。
IF 2.1
Reproduction, fertility, and development Pub Date : 2026-04-20 DOI: 10.1071/RD25059
Chunmei Yu, Jiaying Ge, Yang Chen, Xiyang Xia, Xiaoyu Wang, Jing Zhou, Shuxian Wang, Dan Shen, Yu Chen, Lingmin Hu, Renjie Lu
{"title":"'Vanishing twin syndrome' following frozen embryo transfer has no detrimental effects on offspring growth and development up to 3 years.","authors":"Chunmei Yu, Jiaying Ge, Yang Chen, Xiyang Xia, Xiaoyu Wang, Jing Zhou, Shuxian Wang, Dan Shen, Yu Chen, Lingmin Hu, Renjie Lu","doi":"10.1071/RD25059","DOIUrl":"10.1071/RD25059","url":null,"abstract":"<p><strong>Context: </strong>Vanishing twin syndrome (VTS) is a common condition in assisted reproductive procedures, where a multi-fetus pregnancy is spontaneously reduced to a singleton pregnancy. However, the effects of VTS on the development of the remaining fetus is relatively unknown.</p><p><strong>Aims: </strong>The purpose of this study was to estimate the effect of VTS on the dynamic measurement of growth and development of the singletons (0-3 years) born from frozen embryo transfer (FET).</p><p><strong>Methods: </strong>This study was a retrospective cohort design and was carried out from January 2017 to December 2023. To optimize statistical efficiency and reduce confounding variables, singletons conceived using VTS were matched at a 4:1 ratio based on the couples' ages, body mass index, occupation, women's anti-Müllerian hormone (AMH) levels, and embryo status. Ultimately, 66 children in the VTS group and 264 children in the non-VTS group were included in the final analysis.</p><p><strong>Key results: </strong>After propensity matching, there was no significant difference in growth and development of children between the VTS group and the non-VTS group. The number of embryos transferred in the VTS group were higher than the non-VTS group (P < 0.0001). The height and the head circumference (at 3 months) in the VTS group were lower than the non-VTS group (P < 0.05).</p><p><strong>Conclusions: </strong>The occurrence of VTS did not detrimentally affect the growth and development of offspring (0-3 years) from FET.</p><p><strong>Implications: </strong>More comprehensive and long-term follow-up results are needed for further verification. More than one embryo transfer not only increases the rate of multiple births, but also increases the occurrence of VTS in assisted reproductive technologies (ART).</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146151718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FAM216A and CCDC166 are not essential for male fertility. FAM216A和CCDC166对男性生育能力不是必需的。
IF 2.1
Reproduction, fertility, and development Pub Date : 2026-03-31 DOI: 10.1071/RD25178
Sibing Hou, Xiaochao Wei, Yaran Zhang, Chunhong Yang, Yaping Gao, Yao Xiao, Zhihua Ju, Qiang Jiang, Jinpeng Wang, Yujie Wang, Wenjun Zhao, Wenhao Liu, Yanqin Li, Yundong Gao, Zeying Wang, Xiuge Wang, Jinming Huang
{"title":"FAM216A and CCDC166 are not essential for male fertility.","authors":"Sibing Hou, Xiaochao Wei, Yaran Zhang, Chunhong Yang, Yaping Gao, Yao Xiao, Zhihua Ju, Qiang Jiang, Jinpeng Wang, Yujie Wang, Wenjun Zhao, Wenhao Liu, Yanqin Li, Yundong Gao, Zeying Wang, Xiuge Wang, Jinming Huang","doi":"10.1071/RD25178","DOIUrl":"10.1071/RD25178","url":null,"abstract":"<p><strong>Context: </strong>Bull fertility is crucial for livestock reproductive efficiency, yet studies on bull spermatozoa and its molecular mechanisms remain limited. Direct research in cattle is challenging, while gene-knockout mouse models provide an effective alternative for investigating gene functions.</p><p><strong>Aims: </strong>This study aimed to investigate the role of two testis-enriched genes, FAM216A and CCDC166, in male fertility.</p><p><strong>Methods: </strong>We evaluated the conservation of FAM216A and CCDC166 in mammals through phylogenetic analysis and sequence alignment. Their expression patterns were investigated using published single-cell transcriptome data and RT-PCR. The role of these genes in reproductive function was assessed through knockout mouse models, histochemical staining, and fertility analysis.</p><p><strong>Key results: </strong>FAM216A and CCDC166 are highly conserved across mammalian species and abundantly expressed in testicular tissues. Knocking out these two genes does not affect male fertility in mice.</p><p><strong>Conclusions: </strong>Knockout of Fam216a and Ccdc166 did not impair male fertility in mice, suggesting functional redundancy. Under the experimental conditions applied, they do not appear to be key factors for male fertility, and similar outcomes may be expected in bulls.</p><p><strong>Implications: </strong>Although Fam216a and Ccdc166 are not essential for male fertility in mice, this study provides critical guidance for future research. It facilitates more targeted investigations of other candidate genes and avoids unnecessary studies, while also laying a foundation for exploring their functions in other physiological processes and diseases.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146109455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A concept-enhanced, knowledge graph-guided framework for interpretable PCOS prediction: a case study in explainable biomedical artificial intelligence. 可解释PCOS预测的概念增强、知识图谱引导框架:可解释生物医学人工智能的案例研究。
IF 2.1
Reproduction, fertility, and development Pub Date : 2026-03-31 DOI: 10.1071/RD25145
Sudeepti Kulshrestha, Neeraj Kumar, Pulkit Verma, Kriti Sikri, Mayank Gangwar, Abhishek Sengupta, Suruchi Aggarwal, Priyanka Narad
{"title":"A concept-enhanced, knowledge graph-guided framework for interpretable PCOS prediction: a case study in explainable biomedical artificial intelligence.","authors":"Sudeepti Kulshrestha, Neeraj Kumar, Pulkit Verma, Kriti Sikri, Mayank Gangwar, Abhishek Sengupta, Suruchi Aggarwal, Priyanka Narad","doi":"10.1071/RD25145","DOIUrl":"10.1071/RD25145","url":null,"abstract":"<p><strong>Context: </strong>Overcoming the disconnect between efficient Machine Learning (ML) techniques and its therapeutic applicability necessitates frameworks that provide clear, contextualized evidence.</p><p><strong>Aims: </strong>The present work examines the efficacy of a conceptually-enhanced framework that combines biological domain expertise, knowledge graphs, and probabilistic inference with ML predictions. We employed this innovative strategy for predicting polycystic ovary syndrome (PCOS).</p><p><strong>Methods: </strong>PCOS clinical data (541 patients) was sourced from Kaggle. Clinically relevant conceptual characteristics were developed and integrated with raw data using a knowledge graph (KG) employing TransE-based semantic proximity scoring and a Bayesian network (BN) to characterize conditional dependencies. Knowledge-driven concepts were included in subsequent ML procedures, including LazyPredict for model screening, and ensemble model construction from top 10 models based on accuracy using soft-voting ensemble classifier. Patient-specific, guideline-compliant explanations were designed to accompany all model predictions for improved interpretability.</p><p><strong>Key results: </strong>The approach demonstrated robust predictive abilities, with the concept-integrated ensemble model demonstrating the strongest performance, with a five-fold stratified cross-validation accuracy of 93.65% (95% CI: 91.59-95.63%) and a ROC-AUC of 0.98 (95% CI: 0.96-1.00%). In addition to predicting accurately, the incorporation of features obtained from KG and BN significantly improved interpretability, with causal probabilities based on BN proving to be the most important feature. The framework facilitated patient-specific, concept-based interpretations consistent with clinical guidelines.</p><p><strong>Conclusion: </strong>The integration of biomedically-relevant concepts improves the interpretability of PCOS predictions while maintaining predictive performance.</p><p><strong>Implications: </strong>Our work proposes the use of clinician-aligned PCOS screening tools that provide transparent risk classification and informed treatment decisions.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"38 5","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147523579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Single-oocyte mRNA sequencing reveals that AMH-overexpression alters oocyte gene expression. 单卵母细胞mRNA测序显示amh过表达改变卵母细胞基因表达。
IF 2.1
Reproduction, fertility, and development Pub Date : 2026-03-31 DOI: 10.1071/RD25190
Timothy A Hore, Michael W Pankhurst
{"title":"Single-oocyte mRNA sequencing reveals that AMH-overexpression alters oocyte gene expression.","authors":"Timothy A Hore, Michael W Pankhurst","doi":"10.1071/RD25190","DOIUrl":"10.1071/RD25190","url":null,"abstract":"<p><strong>Context: </strong>Anti-Müllerian hormone (AMH) regulates ovarian follicle development, but AMH overexpression has been linked to impaired fertility and pregnancy failure. Our previous studies indicated that AMH overexpression hindered preimplantation embryo development.</p><p><strong>Aims: </strong>To investigate whether AMH influences oocyte competence, we performed single-oocyte RNA sequencing from wild-type (Thy1.2-AMH0/0) and AMH-overexpressing (Thy1.2-AMHTg/0) mice.</p><p><strong>Methods: </strong>Individual, naturally-ovulated mouse oocytes underwent denuding, followed by preparation of cDNA libraries for sequencing. Thy1.2-AMH0/0 and AMH-overexpressing Thy1.2-AMHTg/0 oocytes were compared by principle component, differential gene expression and gene ontology analyses.</p><p><strong>Key results: </strong>Principal component analysis revealed that global transcriptomic variation was greater within groups than between groups; however, differential expression analysis identified 39 significantly altered transcripts. The most prominent changes included increased expression of Rps3a3 (70-fold), Hormad1 (22-fold), and Fnip2 (5.6-fold), alongside reduced expression of the ribosomal gene Rps3a. Gene ontology enrichment highlighted mitochondrial function and DNA repair pathways. Our findings suggest that sustained AMH signalling during late folliculogenesis modifies oocyte gene expression.</p><p><strong>Conclusions: </strong>Subtle differences exist between the gene expression profiles of oocytes that develop in an environment with slightly increased AMH levels.</p><p><strong>Implications: </strong>Increased AMH expression may be detrimental to oocyte development.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146160000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Are antioxidants hindering stallion sperm capacitation? A perspective on hidden barriers to equine IVF success. 抗氧化剂是否阻碍了种马精子的获能?对马体外受精成功的隐藏障碍的看法。
IF 2.1
Reproduction, fertility, and development Pub Date : 2026-03-31 DOI: 10.1071/RD26009
Ashlee J Medica, Zamira Gibb, Jose Manuel Ortiz-Rodriguez, Aleona Swegen
{"title":"Are antioxidants hindering stallion sperm capacitation? A perspective on hidden barriers to equine IVF success.","authors":"Ashlee J Medica, Zamira Gibb, Jose Manuel Ortiz-Rodriguez, Aleona Swegen","doi":"10.1071/RD26009","DOIUrl":"10.1071/RD26009","url":null,"abstract":"<p><p>Heavy use of antioxidants in equine in vitro fertilisation (IVF) media may suppress the reactive oxygen species (ROS) signals stallion sperm need for capacitation, which depends on high mitochondrial activity and a well-maintained endogenous redox homeostasis. A species-specific approach balancing oxidative protection with controlled ROS signalling could improve fertilisation efficiency and reduce prolonged incubation times.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"38 5","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147446757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effect of seminal plasma on the mass motility of epididymal ram spermatozoa. 精浆对附睾公羊精子质量运动的影响。
IF 2.1
Reproduction, fertility, and development Pub Date : 2026-03-10 DOI: 10.1071/RD25174
Madeleine Van de Hoek, Jessica P Rickard, Simon P de Graaf
{"title":"The effect of seminal plasma on the mass motility of epididymal ram spermatozoa.","authors":"Madeleine Van de Hoek, Jessica P Rickard, Simon P de Graaf","doi":"10.1071/RD25174","DOIUrl":"10.1071/RD25174","url":null,"abstract":"<p><strong>Context: </strong>Mass motility assessment is widely used to evaluate semen quality in the sheep breeding industry, yet the biological factors influencing motility duration remain poorly characterised. At ejaculation, spermatozoa are combined with seminal plasma (SP), which initially supports motility and function but may compromise long-term metabolic endurance.</p><p><strong>Aims: </strong>This study aimed to investigate the effects of SP on mass motility duration and pH regulation of epididymal ram spermatozoa.</p><p><strong>Methods: </strong>Epididymal sperm were incubated with whole SP, saline, or left undiluted to assess motility duration. Subsequently, sperm were incubated with varying SP concentrations and molecular weight-separated fractions (protein-free <3 kDa; protein-enriched >3 kDa) and assessed for motility and pH over 24 h. Metabolomic and lipidomic profiling via targeted mass spectrometry characterised the biochemical composition of each SP fraction.</p><p><strong>Key results: </strong>SP exposure significantly reduced mass motility duration (195 ± 11 min) compared with undiluted sperm (1797 ± 185 min; P = 0.0123) and saline dilution (2667 ± 134 min; P < 0.0001). All SP-treated groups exhibited a progressive pH decline, consistent with increased glycolytic flux, whereas SP-naïve sperm showed stable or increasing pH, indicating a more regulated metabolic state and greater metabolic flexibility. The protein-free SP fraction was most detrimental to motility, which was likely to be the result of the depletion of key proteins, lipids, and metabolites associated with energy production.</p><p><strong>Conclusions: </strong>Prolonged exposure to SP impairs ram sperm motility longevity by promoting a glycolysis-biased metabolic state and reducing metabolic endurance.</p><p><strong>Implications: </strong>Understanding how seminal plasma composition influences sperm metabolic regulation may inform strategies to better preserve sperm motility during semen handling and storage.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146055788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Visfatin as a modulator of factors involved in human placental invasion and angiogenesis: interactions with folic acid and aspirin. Visfatin作为参与人胎盘侵袭和血管生成的因子的调节剂:与叶酸和阿司匹林的相互作用。
IF 2.1
Reproduction, fertility, and development Pub Date : 2026-03-10 DOI: 10.1071/RD25160
Monika Dawid, Tomasz Milewicz, Agnieszka Rak
{"title":"Visfatin as a modulator of factors involved in human placental invasion and angiogenesis: interactions with folic acid and aspirin.","authors":"Monika Dawid, Tomasz Milewicz, Agnieszka Rak","doi":"10.1071/RD25160","DOIUrl":"10.1071/RD25160","url":null,"abstract":"<p><strong>Context: </strong>Our previous studies demonstrated the expression of visfatin in the human placenta and its impact on placental cell proliferation and apoptosis.</p><p><strong>Aims: </strong>This study aimed to examine the effect of visfatin, folic acid (FA), and aspirin (ASA) on markers of invasion and angiogenesis in the human placenta.</p><p><strong>Methods: </strong>JEG-3 cells and placental villi from normal pregnancies at term were treated for 48 h with visfatin (1 ng/mL, 10 ng/mL or 100 ng/mL) to assess the levels of metalloproteinases (MMP-2/MMP-9), their inhibitors (TIMP-1/TIMP-2), and vascular endothelial growth factors (VEGFA/PLGF). Next, using a pharmacological inhibitor of both the insulin receptor (INSR) and selected kinase pathways, the action of visfatin on the levels of MMPs, TIMPs, VEGFA, and PLGF was analyzed in JEG-3 cells. Finally, using the same research model, the effects of FA (2 nM, 20 nM, 100 nM) or ASA (0.1 mM) on visfatin and INSR expression, as well as the levels of the mentioned factors regulating invasion and angiogenesis, were studied.</p><p><strong>Key results: </strong>Visfatin increased MMP-9 levels, while decreasing MMP-2, TIMPs, VEGFA, and PLGF, through distinct intracellular pathways. FA reduced visfatin level and modulated INSR, while ASA decreased both. Moreover, the combined use of FA or ASA with visfatin altered the effect observed for visfatin alone.</p><p><strong>Conclusions: </strong>Visfatin acts as a novel regulator of invasion factors and decreases the levels of agents involved in angiogenesis. Folic acid or aspirin can modulate its activity.</p><p><strong>Implications: </strong>The regulatory potential of FA and ASA on visfatin action may be relevant in the context of pregnancy-related pathologies.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"38 4","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147328794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 endocannabinoid 2-AG and its hydrolases for regulation on sperm motility and acrosome reaction in Kunming mice. 内源性大麻素2-AG及其水解酶对昆明小鼠精子活力和顶体反应调控的研究。
IF 2.1
Reproduction, fertility, and development Pub Date : 2026-02-19 DOI: 10.1071/RD25040
Xin Zhang, Wenjing Wu, Yahui Li, Minghua Yang
{"title":"Investigation of endocannabinoid 2-AG and its hydrolases for regulation on sperm motility and acrosome reaction in Kunming mice.","authors":"Xin Zhang, Wenjing Wu, Yahui Li, Minghua Yang","doi":"10.1071/RD25040","DOIUrl":"10.1071/RD25040","url":null,"abstract":"<p><strong>Context: </strong>A key endocannabinoid, 2-arachidonoyl glycerol (2-AG), regulates sperm hyperactivation in humans via alpha/beta hydrolase domain-containing protein 2 (ABHD2)-mediated CatSper calcium channel activation. However, the role of ABHD2 in mice is unclear, whereas monoacylglycerol lipase (MAGL), ABHD-containing protein 6 (ABHD6), and ABHD-containing protein 12 (ABHD12) modulate 2-AG in the mouse central nervous system (CNS).</p><p><strong>Aims: </strong>This study explored the impact of 2-AG on mouse sperm motility, its regulatory mechanisms, and the involvement of MAGL, ABHD6, and ABHD12.</p><p><strong>Methods: </strong>2-AG concentrations in caput and caudal epididymal sperm from Kunming mice were quantified. ABHD2/6/12 and MAGL were identified, localized, and assessed for roles in motility and calcium (Ca2+) influx.</p><p><strong>Key results: </strong>Caput sperm exhibited higher 2-AG contents than did caudal sperm. Four hydrolases regulated motility via 2-AG hydrolysis to induce calcium influx. MAGL showed the strongest hydrolytic activity, ABHD2 the weakest. Subcellular localization showed MAGL in mid-piece, ABHD12 in mid-piece and principal piece, and ABHD2/ABHD6 in acrosomal region.</p><p><strong>Conclusions: </strong>2-AG modulates mouse sperm motility via calcium signaling. MAGL, ABHD6, and ABHD12 drive 2-AG hydrolysis, while ABHD2 is linked to acrosome exocytosis, not 2-AG breakdown.</p><p><strong>Implications: </strong>Targeting MAGL/ABHD12 offers non-hormonal contraceptive strategies or assisted reproductive technology (ART) improvements. Monitoring 2-AG and hydrolase activity could aid in diagnosing male infertility.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145949131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SOD1 and SOD2 gene variants are significantly correlated with male infertility in a North Indian population, suggesting a possible pleiotropic conflict. 在北印度人群中,SOD1和SOD2基因变异与男性不育显著相关,提示可能存在多效性冲突。
IF 2.1
Reproduction, fertility, and development Pub Date : 2026-02-19 DOI: 10.1071/RD25112
Sonali Bhan, Manisha Bhagat, Shreya Sopori, Bhawani Sharma, Rakesh Kumar, Arti Dhar, Audesh Bhat
{"title":"SOD1 and SOD2 gene variants are significantly correlated with male infertility in a North Indian population, suggesting a possible pleiotropic conflict.","authors":"Sonali Bhan, Manisha Bhagat, Shreya Sopori, Bhawani Sharma, Rakesh Kumar, Arti Dhar, Audesh Bhat","doi":"10.1071/RD25112","DOIUrl":"10.1071/RD25112","url":null,"abstract":"<p><strong>Context: </strong>Oxidative stress has a detrimental effect on sperm quality, which can lead to infertility. Antioxidant enzymes, such as superoxide dismutases (SODs), have crucial role to protect sperms from oxidative stress. Variations in the SOD genes have thus been linked to male fertility.</p><p><strong>Aims: </strong>The primary aim of the study was to evaluate the genetic factors contributing to male reproductive health in the population of Jammu and Kashmir. Specifically, the study aimed to assess the impact of SOD1/rs4998557 and SOD2/rs4880 polymorphisms on risk of male infertility and to investigate the gene-gene interactions between SOD1 and SOD2 variants to determine their combined effect on susceptibility to male infertility.</p><p><strong>Methods: </strong>SOD1/rs4998557 and SOD2/rs4880 single nucleotide variants (SNVs) were genotyped in 411 males (208 cases and 203 controls) using TaqMan probe and quantitative polymerase chain reaction (qPCR) technique to investigate the role of these polymorphisms in male infertility in the North Indian population of Jammu and Kashmir.</p><p><strong>Key results: </strong>Logistic regression analysis using SPSS showed a significant correlation of both SNVs with male infertility in the study population. The SOD2/rs4880C>T (Ala16Val) variant showed a significant positive correlation [OR = 2.02 (95% CI:1.27-3.20), adjusted P = 0.003] and SOD1/rs4998557G>A intronic variant a significant negative correlation [OR = 0.43 (95% CI:0.27-0.69), adj. P = 0.001] with male infertility. The gene-gene interaction analysis suggested that the concomitant presence of SOD2/rs4880 and SOD1/rs4998557 effectively reduces the risk for infertility.</p><p><strong>Conclusions: </strong>Our data indicated a pleiotropic conflict between SOD2/rs4880 and SOD1/rs4998557 in male infertility. Specifically, SOD2/rs4880 is linked to an increased risk of male infertility, whereas SOD1/rs4998557 is associated with a decreased risk. To the best of our knowledge, this is the first study to report the association of SOD SNVs with male infertility in any Indian population.</p><p><strong>Implications: </strong>As the first study to report these associations in an Indian population, it highlights the importance of regional genetic diversity. This paves the way for more inclusive, ethinicity based genetic counselling and reproductive medicine in South Asia. Additionally, the discovery that one variant increases risk while the other decreases risk suggests that male infertility is governed by complex balance of oxidative defence mechanisms.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145949194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Is intracytoplasmic sperm injection (ICSI) the solution when there is not any problem; exploring ICSI vs in vitro fertilization (IVF) outcomes in sibling oocytes from donor sperm assisted reproductive technology (ART) cycles. 卵胞浆内单精子注射(ICSI)是没有问题的解决方案吗?探讨来自供体精子辅助生殖技术(ART)周期的同胞卵母细胞的ICSI与体外受精(IVF)结果。
IF 2.1
Reproduction, fertility, and development Pub Date : 2026-02-19 DOI: 10.1071/RD25130
Ella Golbary Kinory, Yael Kalma, Shir Lavie, Shimi Barda, Foad Azem, Noga Fuchs Weizman
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