Phenomics (Cham, Switzerland)最新文献

Characteristics of the Corneal Endothelium in Elderly Adults with High Myopia.

IF 3.7

Phenomics (Cham, Switzerland) Pub Date : 2025-01-27 eCollection Date: 2024-12-01 DOI: 10.1007/s43657-024-00186-6

Yinglei Zhang, Shaohua Zhang, Keke Zhang, Yi Lu, Xiangjia Zhu

{"title":"Characteristics of the Corneal Endothelium in Elderly Adults with High Myopia.","authors":"Yinglei Zhang, Shaohua Zhang, Keke Zhang, Yi Lu, Xiangjia Zhu","doi":"10.1007/s43657-024-00186-6","DOIUrl":"10.1007/s43657-024-00186-6","url":null,"abstract":"This cross-sectional study aimed to investigate the corneal endothelial characteristics in elderly individuals with high myopia. We assessed corneal endothelial characteristics in 1065 eyes of 1065 elderly patients (549 highly myopic and 516 control eyes) using non-contact specular microscopy. Confirmation of suspected Fuchs endothelial corneal dystrophy (FECD) was performed with slit-lamp and confocal microscopy. Highly myopic eyes exhibited significantly greater central endothelial cell density (ECD) and coefficient of variation (CV) (p = 0.001 and p = 0.002, respectively), and lower average cell area (AVG) and percent of hexagonality (HEX) (p = 0.014 and p < 0.001, respectively) compared to control eyes. After adjusting for age and gender, axial length (AL) was positively correlated with ECD and CV (r = 0.130, p < 0.001 and r = 0.113, p < 0.001, respectively), and was negatively correlated with AVG and HEX (r = - 0.105, p = 0.001 and r = - 0.204, p < 0.001, respectively). FECD prevalence was 4.92% in highly myopic eyes and 3.29% in controls, with more advanced cases in highly myopic eyes (p = 0.036). In conclusion, longer AL was associated with increased corneal ECD, and greater endothelial pleomorphism and polymegethism in elderly patients. Highly myopic eyes appeared to have higher prevalence and severity of FECD. The study was registered on www.clinicaltrials.gov on February 26, 2017, with the registration number NCT03062085.","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"562-569"},"PeriodicalIF":3.7,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Newly Identified Genes Linked to Tetralogy of Fallot.

IF 3.7

Phenomics (Cham, Switzerland) Pub Date : 2025-01-21 eCollection Date: 2024-12-01 DOI: 10.1007/s43657-024-00203-8

Ying Liu, Weinian Shou

引用次数: 0

MST1R Gene Variants Predispose Individuals to Tetralogy of Fallot.

IF 3.7

Phenomics (Cham, Switzerland) Pub Date : 2025-01-21 eCollection Date: 2024-12-01 DOI: 10.1007/s43657-024-00175-9

Zhiyu Feng, Xianghui Huang, Yuan Gao, Han Gao, Weilan Na, Chaozhong Tan, Shaojie Min, Yuquan Lu, Quannan Zhuang, Siyi Lin, Xiaojing Ma, Weicheng Chen, Weili Yan, Wei Sheng, Guoying Huang

{"title":"MST1R Gene Variants Predispose Individuals to Tetralogy of Fallot.","authors":"Zhiyu Feng, Xianghui Huang, Yuan Gao, Han Gao, Weilan Na, Chaozhong Tan, Shaojie Min, Yuquan Lu, Quannan Zhuang, Siyi Lin, Xiaojing Ma, Weicheng Chen, Weili Yan, Wei Sheng, Guoying Huang","doi":"10.1007/s43657-024-00175-9","DOIUrl":"10.1007/s43657-024-00175-9","url":null,"abstract":"Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart malformation. While a few susceptibility genes for TOF have been identified, research on the genetic basis of TOF is limited. The Macrophage stimulating 1 receptor (MST1R) gene encodes the macrophage-stimulating protein receptor with tyrosine phosphatase activity that is involved in immune defense. In this study, we performed whole-exome sequencing (WES) on 10 TOF families and 50 sporadic TOF patients and identified a recessive homozygous missense mutation in MST1R, c.T2009G: p.V670G, in two offspring with TOF in a single family. Targeted sequencing of the MST1R gene showed enrichment for rare variants in 417 TOF patients compared with East Asians in Genome Aggregation Database Version 2 (gnomADv2_EAS). MST1R-deficient human induced pluripotent stem cells (hiPSCs) maintained normal pluripotency but differentiated into non-functional cardiomyocytes (CMs). Taken together, our findings indicate that MST1R may play a critical role in cardiac differentiation and genetic variations in MST1R may be associated with the pathogenesis of TOF.Supplementary information: The online version contains supplementary material available at 10.1007/s43657-024-00175-9.","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"548-561"},"PeriodicalIF":3.7,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889330/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Brain Imaging and Phenotyping for the China Phenobank Project.

IF 3.7

Phenomics (Cham, Switzerland) Pub Date : 2025-01-02 eCollection Date: 2024-12-01 DOI: 10.1007/s43657-024-00197-3

Wenjia Bai

引用次数: 0

Improved prediction of swimming talent through random forest analysis of anthropometric and physiological phenotypes. 通过人体测量和生理表型的随机森林分析改进游泳天赋的预测。

IF 3.7

Phenomics (Cham, Switzerland) Pub Date : 2024-11-20 eCollection Date: 2024-10-01 DOI: 10.1007/s43657-024-00176-8

Cheng Liu, Bingxiang Xu, Kang Wan, Qin Sun, Ruwen Wang, Yue Feng, Hui Shao, Tiemin Liu, Ru Wang

{"title":"Improved prediction of swimming talent through random forest analysis of anthropometric and physiological phenotypes.","authors":"Cheng Liu, Bingxiang Xu, Kang Wan, Qin Sun, Ruwen Wang, Yue Feng, Hui Shao, Tiemin Liu, Ru Wang","doi":"10.1007/s43657-024-00176-8","DOIUrl":"10.1007/s43657-024-00176-8","url":null,"abstract":"The field of competitive swimming lacks broadly applicable predictive models for talent identification across various age groups of adolescent swimmers. This study aimed to construct a predictive model for athletic talent using machine learning methods based on anthropometric and physiological data. Baseline data were collected from 5444 participants aged 10-18 in Shanghai, China, between 2015 and 2018, with 4969 completing a 3-year follow-up. Talents were discerned based on their performance over the follow-up period, revealing age- and sex- dependent developmental differences between swimmers classified as talented versus non-talented. After controlling for confounding variables, age and sex, nine machine learning algorithms were employed, with Random Forest achieving the highest performance and being selected as the final model. The model demonstrated excellent predictive performance on both the test dataset and an independent validation dataset from Shandong (n = 118), indicating its strong generalizability. Furthermore, using the SHapley Additive exPlanations (SHAP) method to interpret the model, abdominal skinfold, lung capacity, chest circumference, shoulder width, and triceps skinfold were identified as the five most critical indicators for talent identification.Supplementary information: The online version contains supplementary material available at 10.1007/s43657-024-00176-8.","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 5","pages":"465-472"},"PeriodicalIF":3.7,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Risk Analysis of Atrial Fibrillation Based on ECG Phenotypes: The RAF-ECP Study Protocol.

IF 3.7

Phenomics (Cham, Switzerland) Pub Date : 2024-11-19 eCollection Date: 2024-12-01 DOI: 10.1007/s43657-023-00151-9

Aiguo Wang, Jiacheng He, Xujian Feng, Jingchun Luo, Wei Chen, Yong Wei, Cuiwei Yang

{"title":"Risk Analysis of Atrial Fibrillation Based on ECG Phenotypes: The RAF-ECP Study Protocol.","authors":"Aiguo Wang, Jiacheng He, Xujian Feng, Jingchun Luo, Wei Chen, Yong Wei, Cuiwei Yang","doi":"10.1007/s43657-023-00151-9","DOIUrl":"10.1007/s43657-023-00151-9","url":null,"abstract":"Atrial fibrillation (AF) is the most common supraventricular arrhythmia in clinical practice, and many patients exhibit silent AF. Variables based on Electrocardiogram (ECG) have shown promise in assessing AF risk in the previous study. This study protocol proposes a systematic approach, named RAF-ECP, to evaluate the role of ECG phenotypes in assessing the risk of AF. The protocol aims to standardize the definition and calculation of ECG phenotypes, ensuring consistency and comparability across different research studies and healthcare settings. Data will be collected from multiple clinical laboratories, with an anticipated sample size of 10,000 cases (lead I and II, 10 s) evenly distributed between subjects with and without AF events in one-year time frame. By analyzing ECG data and baseline information, statistical tests and machine learning classifiers will be employed to identify significant risk factors and develop a comprehensive risk assessment model for AF. The anticipated outcomes include hazard ratio values, confidence intervals, p values, as well as accuracy, sensitivity, and specificity measures. The study also discusses the clinical relevance and potential benefits of standardizing ECG phenotypes, emphasizing the need for collaboration between multiple centers to obtain diverse and representative datasets. The proposed RAF-ECP study protocol offers a novel and significant approach to understanding the impact of ECG phenotypes on AF risk assessment. Its integration of statistical analysis and machine learning techniques has the potential to advance AF research and contribute to the development of improved risk prediction models and clinical decision support tools.","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"617-632"},"PeriodicalIF":3.7,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Alterations of Sensory-related Functional Brain Network Connectivity in Nrsn2 Homozygous Knockout Mice. Nrsn2纯合敲除小鼠感觉相关功能性脑网络连通性的改变

IF 3.7

Phenomics (Cham, Switzerland) Pub Date : 2024-11-18 eCollection Date: 2024-10-01 DOI: 10.1007/s43657-024-00181-x

Yuan Yi, Fei Dai, Yuwen Zhang, Jiawei Han, Jialu Wei, Lingbo Wang, He Wang, Yu An

{"title":"Alterations of Sensory-related Functional Brain Network Connectivity in Nrsn2 Homozygous Knockout Mice.","authors":"Yuan Yi, Fei Dai, Yuwen Zhang, Jiawei Han, Jialu Wei, Lingbo Wang, He Wang, Yu An","doi":"10.1007/s43657-024-00181-x","DOIUrl":"10.1007/s43657-024-00181-x","url":null,"abstract":"Neurensin-2 (Nrsn2) is a neuro-specific gene linked to neurodevelopmental disorders and has recently been reported to function as a bidirectional emotional regulator, highlighting its molecular roles in the nervous system. However, the connections between Nrsn2, brain architecture, and functionality remain to be fully elucidated. Our study utilized 11.7 T multimodal magnetic resonance imaging (MRI) to assess the impact of Nrsn2 gene knockout on the brain's microstructure, regional functional activity, and network connectivity during different developmental phases in mice. We observed significant changes in the functional brain network connectivity of Nrsn2 -/- mice without marked differences in brain microstructure or regional activity. These changes were particularly pronounced in sensory-related areas, such as the gustatory and auditory systems, in both juvenile and adult specimens. Previous studies have correlated the enhanced Default Mode Network (DMN) with depression, and Nrsn2 knockout has been associated with stress resilience. Our findings further revealed reduced connectivity in various DMN regions in adult Nrsn2 -/- mice, suggesting a potential link to increased stress tolerance. Moreover, the sensory system's critical role in environmental perception implies that alterations in network connectivity due to Nrsn2 knockout could affect the processing and integration of external inputs, thereby influencing emotional experiences.Supplementary information: The online version contains supplementary material available at 10.1007/s43657-024-00181-x.","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 5","pages":"473-486"},"PeriodicalIF":3.7,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666851/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Towards Risk Stratification in Clinical Care for IgA Nephropathy: Genetic Risk Scores: Comments on the Study "Clinical Application of Polygenic Risk Score in IgA Nephropathy". IgA肾病临床护理的风险分层：遗传风险评分：对“多基因风险评分在IgA肾病中的临床应用”研究的评论

IF 3.7

Phenomics (Cham, Switzerland) Pub Date : 2024-11-12 eCollection Date: 2024-10-01 DOI: 10.1007/s43657-024-00184-8

Celine C Berthier, Wenjun Ju

引用次数: 0

Cohort Profile: TRacing Etiology of Non-communicable Diseases (TREND): Rationale, Progress and Perspective.

IF 3.7

Phenomics (Cham, Switzerland) Pub Date : 2024-10-16 eCollection Date: 2024-12-01 DOI: 10.1007/s43657-024-00196-4

Hui-Ying Ren, Ying Lv, Bei-Ning Ma, Chang Gao, Hong-Mei Yuan, Hai-Hong Meng, Zheng-Qian Cao, Ya-Ting Chen, Yan-Xi Zhang, Yu-Ting Zhang, Wei Liu, Yu-Ping Fan, Meng-Han Li, Yu-Xuan Wu, Zhuo-Yue Feng, Xin-Xin Zhang, Zhen-Jian Luo, Qiu-Yi Tang, Anke Wesselius, Jian Chen, Hong-Xing Luo, Qi-Rong Qin, Lianmin Chen, Evan Yi-Wen Yu

{"title":"Cohort Profile: TRacing Etiology of Non-communicable Diseases (TREND): Rationale, Progress and Perspective.","authors":"Hui-Ying Ren, Ying Lv, Bei-Ning Ma, Chang Gao, Hong-Mei Yuan, Hai-Hong Meng, Zheng-Qian Cao, Ya-Ting Chen, Yan-Xi Zhang, Yu-Ting Zhang, Wei Liu, Yu-Ping Fan, Meng-Han Li, Yu-Xuan Wu, Zhuo-Yue Feng, Xin-Xin Zhang, Zhen-Jian Luo, Qiu-Yi Tang, Anke Wesselius, Jian Chen, Hong-Xing Luo, Qi-Rong Qin, Lianmin Chen, Evan Yi-Wen Yu","doi":"10.1007/s43657-024-00196-4","DOIUrl":"10.1007/s43657-024-00196-4","url":null,"abstract":"The TRacing Etiology of Non-communicable Diseases (TREND) cohort is a prospective longitudinal cohort and biobank that is mainly based in Ma'anshan, Anhui Province, China. The primary aim of the study is to decipher comprehensive molecular characterization and deep phenotyping for a broad spectrum of chronic non-communicable diseases (NCDs), which focuses on providing mechanistic insights with diagnostic, prognostic and therapeutic implications. The recruitment was initiated in 2023 and is expected to complete in 2025 with 20,000 participants originated from urban and rural area. In the first phase, 3360 participants were recruited. Follow-up visits are scheduled annually and intervally for a total of 30 years. The cohort includes individuals aged over 18 years. Two participants with first-degree linkage were recruited from a household. The age distribution of recruited participants was stratified into four categories: 18-45, 45-55, 55-65, and ≥65 years, aligning with the population proportions of Ma'anshan. Meanwhile, the gender distribution was controlled by pairing men and women from the same household. Data collected at baseline includes socio-economic information, medical history, lifestyle and nutritional habits, anthropometrics, blood oxygen, electrocardiogram (ECG), heart sound, as well as blood, urine and feces tests results. Molecular profiling includes genome, proteome, metabolome, microbiome and extracellular vesicles -omics. Blood, urine and fecal samples are collected and stored at -80 °C in a storage facility for future research.Supplementary information: The online version contains supplementary material available at 10.1007/s43657-024-00196-4.","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"584-591"},"PeriodicalIF":3.7,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome.

IF 3.7

Phenomics (Cham, Switzerland) Pub Date : 2024-10-16 eCollection Date: 2024-12-01 DOI: 10.1007/s43657-024-00183-9

Rui Lin, Saihua Zheng, Haiyu Su, Guiying Wang, Xuelian Li, Chenqi Lu

{"title":"Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome.","authors":"Rui Lin, Saihua Zheng, Haiyu Su, Guiying Wang, Xuelian Li, Chenqi Lu","doi":"10.1007/s43657-024-00183-9","DOIUrl":"10.1007/s43657-024-00183-9","url":null,"abstract":"Polycystic ovarian syndrome (PCOS) is the most common reproductive metabolic disorder in women of reproductive age. However, the underlying mechanism is unclear, because the main symptoms vary with age and the pathogenesis is complex and multifactorial. In order to explore the gene expression and regulation networks, and identify potential biomarkers for diagnosis and treatment of PCOS, we conducted whole RNA sequencing of protein-coding genes, lncRNAs, and miRNAs in peripheral blood with case-control design. RNA sequencing and weighted gene co-expression network analysis (WGCNA) were performed on four pairs of PCOS cases and control peripheral blood samples. The results showed that there were significant differences in the expression levels of 341 mRNAs, 252 lncRNAs and 47 miRNAs between PCOS patients and control groups. Bioinformatics analysis showed that these differentially expressed genes (DEGs) were mainly involved in the metabolic, immune, endocrine, and nervous systems, and also identified potential WGCNA module related with PCOS. The DEGs of PCOS as reported in other published literatures were used to verify our DEGs in this study. These results suggest that the ceRNA regulatory relationship between miR-17-5p, LINC02213 and FCGR1A, the trans-regulatory relationship between RP11-405F3.4:IL1R1 and RP11-405F3.4:IL27, and a hub lncRNA of LINC02649 in core regulatory network, which have significant potential for PCOS research. We constructed the core WGCNA module of PCOS from the whole transcriptome of human peripheral blood and characterized the key gene characteristics of PCOS. These findings provide key insights into the candidate characteristics and mechanism elucidation of PCOS.Supplementary information: The online version contains supplementary material available at 10.1007/s43657-024-00183-9.","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"570-583"},"PeriodicalIF":3.7,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889321/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0