Journal of Applied Genetics最新文献

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Bioinformatics screening of prognostic immune-related genes in renal clear cell carcinoma. 肾透明细胞癌预后免疫相关基因的生物信息学筛选。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-05-01 Epub Date: 2024-05-23 DOI: 10.1007/s13353-024-00878-9
Kai Cui, He Song, Han Zhang, Peiyu Sun
{"title":"Bioinformatics screening of prognostic immune-related genes in renal clear cell carcinoma.","authors":"Kai Cui, He Song, Han Zhang, Peiyu Sun","doi":"10.1007/s13353-024-00878-9","DOIUrl":"10.1007/s13353-024-00878-9","url":null,"abstract":"<p><p>This study aims to harness bioinformatics to identify prognostic immune-related genes in clear cell renal cell carcinoma (ccRCC), focusing particularly on LILRB3. It evaluates LILRB3's expression in ccRCC, its association with patient prognosis, and its potential as a biomarker for predicting survival, thereby providing a preliminary basis for the diagnosis of ccRCC. Utilizing The Cancer Genome Atlas (TCGA) datasets and an immune gene set, we sought immune-related genes with elevated expression in ccRCC. Seventy-two normal tissue samples and 531 ccRCC samples were analyzed, and differential genes were identified with a screening criterion of fold change (FC) > 2 and P value < 0.01. Survival analysis and receiver operating characteristic (ROC) curve analysis were employed to discover genes of prognostic and diagnostic relevance to ccRCC. Pearson correlation analysis with a cutoff of |r|≥ 0.5, facilitated by cBioPortal, assessed genes co-expressed with LILRB3. The DAVID online tool conducted functional and pathway enrichment analyses for LILRB3-coexpressed genes. The TIMER and TCIA databases were utilized to explore LILRB3's influence on immune infiltration in the tumor microenvironment and its relation to key immunological checkpoints. Screening the TCGA database revealed 3719 up-regulated differential genes in ccRCC, with 355 overlapping immune-related genes. Survival analysis of these 355 genes revealed 100 with significant survival impact. ROC curve analysis pinpointed the top 10 genes, including LILRB3, with the highest diagnostic efficiency. LILRB3 emerged as an independent risk factor from the Cox risk regression model. GO and KEGG analyses linked LILRB3 to various biological processes, including chemokine signaling pathways, immunological response, antigen processing and presentation, inflammatory response, T cell co-stimulation, and signal transduction. LILRB3 significantly affected ccRCC immune infiltration and correlated positively with several immunological checkpoints, such as PD-1, LAG3, IDO1, PD-L1, CTLA4, TIM3, TIGIT, and VISTA. LILRB3 shows higher expression levels in ccRCC than in normal tissues and correlates with poor patient prognosis. Its impactful role in the immune infiltration of the RCC microenvironment suggests that LILRB3 could serve as a novel target for ccRCC treatment and prognosis, underlining its diagnostic and prognostic significance.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"311-322"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141081465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identifying key genes and functionally enriched pathways in acute myeloid leukemia by weighted gene co-expression network analysis. 通过加权基因共表达网络分析确定急性髓性白血病中的关键基因和功能丰富的通路
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-05-01 Epub Date: 2024-07-09 DOI: 10.1007/s13353-024-00881-0
Jimo Jian, Chenglu Yuan, Hongyuan Hao
{"title":"Identifying key genes and functionally enriched pathways in acute myeloid leukemia by weighted gene co-expression network analysis.","authors":"Jimo Jian, Chenglu Yuan, Hongyuan Hao","doi":"10.1007/s13353-024-00881-0","DOIUrl":"10.1007/s13353-024-00881-0","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) is characterized by the uncontrolled proliferation of myeloid leukemia cells in the bone marrow and other hematopoietic tissues and is highly heterogeneous. While with the progress of sequencing technology, understanding of the AML-related biomarkers is still incomplete. The purpose of this study is to identify potential biomarkers for prognosis of AML. Based on WGCNA analysis of gene mutation expression, methylation level distribution, mRNA expression, and AML-related genes in public databases were employed for investigating potential biomarkers for the prognosis of AML. This study screened a total of 6153 genes by analyzing various changes in 103 acute myeloid leukemia (AML) samples, including gene mutation expression, methylation level distribution, mRNA expression, and AML-related genes in public databases. Moreover, seven AML-related co-expression modules were mined by WGCNA analysis, and twelve biomarkers associated with the AML prognosis were identified from each top 10 genes of the seven co-expression modules. The AML samples were then classified into two subgroups, the prognosis of which is significantly different, based on the expression of these twelve genes. The differentially expressed 7 genes of two subgroups (HOXB-AS3, HOXB3, SLC9C2, CPNE8, MEG8, S1PR5, MIR196B) are mainly involved in glucose metabolism, glutathione biosynthesis, small G protein-mediated signal transduction, and the Rap1 signaling pathway. With the utilization of WGCNA mining, seven gene co-expression modules were identified from the TCGA database, and there are unreported genes that may be potential driver genes of AML and may be the direction to identify the possible molecular signatures to predict survival of AML patients and help guide experiments for potential clinical drug targets.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"347-362"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141558806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Short communication: catechol-O-methyltransferase allelic variation in relation to psychological and hormonal indices of stress in children and adolescents with chromosome 22q11.2 deletion syndrome (22q11.2DS). 短讯:儿茶酚-O-甲基转移酶等位基因变异与患有染色体 22q11.2 缺失综合征(22q11.2DS)的儿童和青少年的心理和荷尔蒙压力指数的关系。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-05-01 Epub Date: 2024-08-10 DOI: 10.1007/s13353-024-00898-5
Jessie L Beebe, Cydney R Martin, Ashley F P Sanders, Jeremy Guidry, Fahad Faheem, Joel Atallah, Elliott A Beaton
{"title":"Short communication: catechol-O-methyltransferase allelic variation in relation to psychological and hormonal indices of stress in children and adolescents with chromosome 22q11.2 deletion syndrome (22q11.2DS).","authors":"Jessie L Beebe, Cydney R Martin, Ashley F P Sanders, Jeremy Guidry, Fahad Faheem, Joel Atallah, Elliott A Beaton","doi":"10.1007/s13353-024-00898-5","DOIUrl":"10.1007/s13353-024-00898-5","url":null,"abstract":"<p><p>Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a developmental disorder with high rates of anxiety and psychosis. Catechol-O-methyltransferase (COMT) regulates epinephrine (E), norepinephrine (NE), and dopamine (DA) and is implicated in both anxiety and psychotic disorders. The aim of this study was to determine how COMT variation relates to psychological anxiety and associated stress physiology responsiveness to better understand symptom heterogeneity in people with 22q11.2DS. We examined COMT allelic variation in relation to anxiety and hypothalamic-pituitary-adrenocortical (HPA) and sympathetic-adrenomedullary (SAM) hormonal stress indicators in 30 children and adolescents with 22q11.2DS. Contrary to expectation, individuals with the higher activity COMTval allele had higher anxiety levels versus those with the low activity (COMTmet) allele (p = 0.021; Glass' Δ = 0.69). Anxiety was not correlated with salivary cortisol (CORT) or alpha-amylase (sAA) in either group. Groups did not differ in CORT levels (p = 0.58), but the COMTmet group had higher sAA (p = 0.026; Glass' Δ = 0.67, uncorrected) suggesting greater SAM reactivity but not HPA activity. This suggests that COMT allelic variation may contribute to differences in acute SAM but not slower HPA stress reactivity in those with 22q11.2DS.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"383-388"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Melatonin in crop plants: from biosynthesis through pleiotropic effects to enhanced stress resilience. 褪黑素在作物中的应用:从生物合成到多效效应到增强应激恢复能力。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-04-30 DOI: 10.1007/s13353-025-00963-7
Martyna Michałek, Piotr Ogrodowicz, Michał Kempa, Anetta Kuczyńska, Krzysztof Mikołajczak
{"title":"Melatonin in crop plants: from biosynthesis through pleiotropic effects to enhanced stress resilience.","authors":"Martyna Michałek, Piotr Ogrodowicz, Michał Kempa, Anetta Kuczyńska, Krzysztof Mikołajczak","doi":"10.1007/s13353-025-00963-7","DOIUrl":"https://doi.org/10.1007/s13353-025-00963-7","url":null,"abstract":"<p><p>Melatonin plays a crucial role in enhancing plant resilience to environmental stresses by regulating physiological and biochemical responses. This review provides an overview of melatonin biosynthesis, signaling pathways, and its interactions with phytohormones, highlighting its multifunctional roles across various crop species. We summarize recent discoveries regarding the biosynthetic pathways of melatonin and its crucial metabolites, emphasizing the importance of tryptophan and serotonin in this process. Furthermore, we discuss the intricate crosstalk between melatonin and phytohormones, particularly auxins, cytokinins, and brassinosteroids, which collectively influence root development, growth, and stress tolerance, among other traits. The antioxidant activity of melatonin and its derivatives, along with their impact on photosynthesis, has also been thoroughly discussed. Notably, melatonin's regulatory actions promote root growth, thereby improving water and nutrient absorption under stress conditions. The identification of candidate genes and a putative receptor provides a foundation for future studies aimed at elucidating the molecular mechanisms underlying melatonin signaling in crop species. Ultimately, this review underscores the potential of harnessing melatonin in crop improvement strategies to enhance resilience to abiotic stresses while promoting sustainable agricultural practices.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transcriptomic analysis of inhibitory effects of isothiazolone antimicrobial agents on Aspergillus amstelodami ZR. 异噻唑酮类抗菌剂对阿斯洛达米曲霉抑制作用的转录组学分析。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-04-30 DOI: 10.1007/s13353-025-00969-1
Junyu Tang, Qizhao Liang, Rui Zhang, Xiaoping Huang
{"title":"Transcriptomic analysis of inhibitory effects of isothiazolone antimicrobial agents on Aspergillus amstelodami ZR.","authors":"Junyu Tang, Qizhao Liang, Rui Zhang, Xiaoping Huang","doi":"10.1007/s13353-025-00969-1","DOIUrl":"https://doi.org/10.1007/s13353-025-00969-1","url":null,"abstract":"<p><p>The preservation of marine specimens requires effective methods to ensure research accuracy and ecological sustainability. However, conventional preservatives (e.g., formaldehyde) pose environmental and health risks due to their toxicity. In this study, we isolated Aspergillus amstelodami from the surface of Oreochromis mossambicus specimens and evaluated the antifungal potential of 1,2-benzoisothiazolin-3-one and Kathon. Both agents exhibited strong inhibitory effects on fungal growth, as evidenced by clear inhibition zones. Transcriptomic analysis revealed: (1) upregulation of detoxification-related genes, including cytochrome P450-mediated xenobiotic/drug metabolism, ABC transporters, and two-component systems, and (2) downregulation of ribosome biogenesis genes, impairing protein synthesis in Aspergillus amstelodami. In conclusion, this study provides novel insights into the molecular antifungal mechanisms of isothiazolone antimicrobial agents in combating contamination of marine biological specimens caused by Aspergillus amstelodami.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family. 脊髓小脑性共济失调27B (SCA27B):波兰一个家庭的系统回顾和病例报告。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-04-29 DOI: 10.1007/s13353-025-00967-3
Adam S Hirschfeld, Julia O Misiorek, Magdalena Dabrowska, Jakub Muszynski, Brandon J Gerhart, Michał Zenczak, Magdalena Rakoczy, Katarzyna Rolle, Pawel M Switonski, Jill S Napierala, Luiza Handschuh, Marek Napierala, Magdalena Badura-Stronka
{"title":"Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.","authors":"Adam S Hirschfeld, Julia O Misiorek, Magdalena Dabrowska, Jakub Muszynski, Brandon J Gerhart, Michał Zenczak, Magdalena Rakoczy, Katarzyna Rolle, Pawel M Switonski, Jill S Napierala, Luiza Handschuh, Marek Napierala, Magdalena Badura-Stronka","doi":"10.1007/s13353-025-00967-3","DOIUrl":"https://doi.org/10.1007/s13353-025-00967-3","url":null,"abstract":"<p><p>Dominantly inherited GAA repeat expansions in the FGF14 gene have recently been identified as the cause of spinocerebellar ataxia 27B (SCA27B). Our study focused on a Polish patient case along with asymptomatic family members. Moreover, we systematically reviewed available case reports to better understand the SCA27B phenotype. Genetic tests for SCA27B were performed on genomic DNA isolated from blood. Long-range polymerase chain reaction (LR-PCR) followed by Nanopore sequencing was conducted to establish the number of GAA repeats. The available literature was systematically reviewed per the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-analyses. The patient's genetic studies identified pure expansions of (GAA) 420/94 repeats in FGF14, confirming the SCA27B diagnosis. A systematic review of 815 cases provides further insight into the typical clinical presentation, with gait ataxia (95.96%) being the most prevalent symptom, followed by abnormal saccadic pursuits (80.69%), nystagmus (71.15%), diplopia (54.05%), and dysarthria (51.22%). Notably, 41.87% of cases exhibited episodic symptoms. The correlation between GAA repeat expansions and the pathogenesis of SCA27B requires further studies. The unique course of the disease with episodic symptoms may cause diagnostic difficulties. Due to its high prevalence in the European population, SCA27B should be considered when diagnosing the causes of late-onset cerebellar ataxia.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
In silico approach on structural and functional characterization of heat shock protein from Sulfobacillus acidophilus. 嗜酸硫杆菌热休克蛋白结构与功能的计算机方法研究。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-04-15 DOI: 10.1007/s13353-025-00964-6
Pritish Mitra, Sabyasachi Chatterjee
{"title":"In silico approach on structural and functional characterization of heat shock protein from Sulfobacillus acidophilus.","authors":"Pritish Mitra, Sabyasachi Chatterjee","doi":"10.1007/s13353-025-00964-6","DOIUrl":"https://doi.org/10.1007/s13353-025-00964-6","url":null,"abstract":"<p><p>The 70 kDa heat shock proteins (Hsp70 s) are highly conserved and ubiquitous molecular chaperones. Hsp70 proteins are intimately involved in different biological activities including maintaining protein homeostasis and resisting environmental stress for survival. Characterizations of eukaryotic Hsp70 s with diverse functions are well established but investigations needed for prokaryotes. For better understanding, the sequences of Sulfobacillus acidophilus were retrieved from UniProt. Retrieved stress proteins were renamed as SaHsp70 s and performed an in silico analysis to identify sequential, structural properties and functional attributes. The in silico characterization of these proteins revealed that they are acidic, mostly thermostable globular protein with NAD(P)-binding Rossmann-folding. Molecular mass of SaHsp70 s ranged from 31.9 to 68.5 kDa and mainly localized in the cytoplasm. Phylogeny revealed the evolutionary distance and relationship among retrieved proteins. Domain analyzed only SaHsp70 - 1, SaHsp70 - 3, and SaHsp70 - 14 have actual conserved domain for Hsp70 and share the same clade on phylogenetic tree. Major part of each protein was abundant with α-helix and random coil which make it thermally stable and suitable for interacting with other proteins. SAVES and ProSA server proves the reliability, stability, and consistency tertiary structure of SaHsp70 s. Functional analysis was done in terms of membrane protein topology, PPI network generation, active and proteolytic cleavage sites prediction, conserved motif and domain detection. CastP predicted Gly, Lys, Thr, Glu, Pro, Gln, Arg and Val act as catalytic residue, are important for metal ions binding. Intramolecular interaction analysis suggested Lys67, Thr12, Thr170, Gly 168, Gly 169, and Glu 141 of SaHsp70 - 14 proteins could play central role in various complex cellular functions like stress mitigation, thermal stability, and related developmental processes.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies. 进行性骨化性纤维发育不良:波兰患者队列的遗传和临床特征以及潜在治疗方法的回顾。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-04-12 DOI: 10.1007/s13353-025-00966-4
Anna Szoszkiewicz, Małgorzata Szczepanek, Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Magdalena Socha, Aleksander Jamsheer
{"title":"Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.","authors":"Anna Szoszkiewicz, Małgorzata Szczepanek, Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Magdalena Socha, Aleksander Jamsheer","doi":"10.1007/s13353-025-00966-4","DOIUrl":"https://doi.org/10.1007/s13353-025-00966-4","url":null,"abstract":"<p><p>Fibrodysplasia ossificans progressiva (FOP; OMIM #135100) is a rare genetic disorder characterized by congenital malformation of the great toes and progressive heterotopic ossification of soft tissues. To date, the disease has been linked to 15 pathogenic variants in the ACVR1 gene, which encodes a type I receptor for bone morphogenetic proteins. Most patients with FOP carry a recurrent single-nucleotide substitution (c.617G>A; p.Arg206His) in the ACVR1 gene. The genotype-phenotype correlations for atypical pathogenic variants of ACVR1 are poorly understood. In this study, we report the largest population of Polish patients affected by FOP and analyze their phenotypes and genotypes. We screened the whole ACVR1 coding sequence of 16 patients affected by FOP to confirm the presence of pathogenic variants. Thirteen individuals carried the classic pathogenic variant (p.Arg206His) and had a classic or FOP-plus phenotype. In agreement with the findings of previous studies, one patient with a p.Gly356Asp pathogenic variant had a variant FOP phenotype. We point to an unusual phenomenon in two patients who carried atypical pathogenic variants (p.Gly356Asp and p.Arg258Ser) and displayed a classic FOP phenotype. Our study extends the understanding of FOP's genotype-phenotype correlation, suggesting that classic FOP phenotypes are associated with non-classic pathogenic variants. We also summarize the recent advances in drug development for this condition. Therefore, the study may be valuable for clinicians consulting patients with FOP.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic nexus of assisted reproduction technique efficacy in infertile women: insights from a comprehensive retrospective study. 不孕妇女辅助生殖技术疗效的遗传关系:来自一项全面回顾性研究的见解。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-04-03 DOI: 10.1007/s13353-025-00961-9
Fengying Li, Bingqi Ye, Mengsha Chen, Xiaoling Zhou, Lei Yu, Jie Xiang, Xiaobin Ren, Jun Zhang
{"title":"Genetic nexus of assisted reproduction technique efficacy in infertile women: insights from a comprehensive retrospective study.","authors":"Fengying Li, Bingqi Ye, Mengsha Chen, Xiaoling Zhou, Lei Yu, Jie Xiang, Xiaobin Ren, Jun Zhang","doi":"10.1007/s13353-025-00961-9","DOIUrl":"https://doi.org/10.1007/s13353-025-00961-9","url":null,"abstract":"<p><p>Infertility presents a substantial challenge for women of reproductive age, exerting profound effects on both individual well-being and healthcare systems. Despite its critical role in folate and homocysteine pathways, the influence of methylenetetrahydrofolate reductase (MTHFR) on the success of assisted reproductive techniques (ART) remains insufficiently understood. This knowledge gap impedes the development of personalized therapeutic strategies. Our study seeks to elucidate the relationship between MTHFR and ART outcomes, exploring potential mediators to enhance treatment efficacy. A cohort of 311 women with infertility was recruited for our study. Multivariate linear models were utilized to evaluate the relationship between the MTHFR 677T allele (a missense mutation resulting in an alanine to valine substitution) and the efficacy of ART, including both treatment outcomes and the number of ART cycles required. Sequential mediation analysis was conducted to elucidate the potential mediators influencing ART efficacy. The MTHFR 677T allele carried by infertile women was associated with a 17-51% reduction in ART efficacy (P < 0.05). This encompassed poorer overall ART outcomes, such as clinical pregnancy and live birth rates, as well as an increased number of ART cycles. Sequential mediation analysis suggested that anti-Müllerian hormone (AMH) and age may act as mediators modulating the impact of the MTHFR 677T allele on ART treatment efficacy. This study has unveiled the intricate connection between MTHFR 677T allele and ART treatment efficacy in infertile women, shedding light on the mediating role of AMH and age.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gene therapy as an innovative approach to the treatment of hemophilia B-a review. 基因治疗作为治疗血友病的一种创新方法综述。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-04-03 DOI: 10.1007/s13353-025-00952-w
Kinga Wróblewska, Dominika Bieszczad, Magdalena Popławska, Karolina Joanna Ziętara, Monika Zajączkowska, Agata Filip
{"title":"Gene therapy as an innovative approach to the treatment of hemophilia B-a review.","authors":"Kinga Wróblewska, Dominika Bieszczad, Magdalena Popławska, Karolina Joanna Ziętara, Monika Zajączkowska, Agata Filip","doi":"10.1007/s13353-025-00952-w","DOIUrl":"https://doi.org/10.1007/s13353-025-00952-w","url":null,"abstract":"<p><p>Hemophilia B is a disease that affects the human coagulation system, causing the absence or deficiency of coagulation factor IX, which may manifest itself in uncontrolled bleeding that is life-threatening to patients. Due to its inheritance, the disease more often affects men, and the severity of symptoms directly correlates with the concentration of the missing factor IX; hence, the aim of therapy is to maintain it at a level that allows for sufficient hemostasis. The basic model of treatment offered to patients is based on primary prevention with coagulation factor IX with a prolonged half-life, which, however, does not solve the numerous problems faced by patients. An innovative proposal that, despite initial concerns, is becoming more and more popular every day is the recently approved genetic therapy in Europe, which uses viral vectors to transfer the correct gene that encodes coagulation factor IX. The introduction of a recombinant gene in place of its defective counterpart seems to be a promising solution and the beginning of a new era in which genetic therapies have a chance to develop their full potential and replace existing therapeutic regimens.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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