Phenomics (Cham, Switzerland)最新文献

{"title":"A Protocol for Digitalized Collection of Traditional Chinese Medicine (TCM) Pulse Information Using Bionic Pulse Diagnosis Equipment.","authors":"Xing Zhu, Fanyu Wang, Jian Mao, Yulin Huang, Peng Zhou, Jingjing Luo","doi":"10.1007/s43657-023-00104-2","DOIUrl":"10.1007/s43657-023-00104-2","url":null,"abstract":"<p><p>Pulse diagnosis equipment used in Traditional Chinese Medicine (TCM) has long been developed for collecting pulse information and in TCM research. However, it is still difficult to implement pulse taking automatically or efficiently in clinical practice. Here, we present a digital protocol for TCM pulse information collection based on bionic pulse diagnosis equipment, which ensures high efficiency, reliability and data integrity of pulse diagnosis information. A four-degree-of-freedom pulse taking platform together with a wrist bracket can satisfy the spatial positioning and angle requirements for individually adaptive pulse acquisition. Three-dimensional reconstruction of a wrist surface and an image localization model are combined to provide coordinates of the acquisition position and detection direction automatically. Three series elastic joints can not only simulate the TCM pulse taking method that \"Three fingers in a straight line, the middle finger determining the 'Guan' location and finger pulp pressing on the radial artery,\" but also simultaneously carry out the force-controlled multi-gradient pressing process. In terms of pulse information integrity, this proposed protocol can generate rich pulse information, including basic individual information, pulse localization distribution, multi-gradient dynamic pulse force time series, and objective pulse parameters, which can help establish the fundamental data sets that are required as the pulse phenotype for subsequent comprehensive analysis of pulse diagnosis. The implementation of this scheme is beneficial to promote the standardization of the digitalized collection of pulse information, the effectiveness of detecting abnormal health status, and the promotion of the fundamental and clinical research of TCM, such as TCM pulse phenomics.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 5","pages":"519-534"},"PeriodicalIF":3.7,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50163994","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}

{"title":"High Arterial Oxygen Saturation in the Acclimatized Lowlanders Living at High Altitude.","authors":"Yaoxi He, Chaoying Cui, Yongbo Guo, Wangshan Zheng, Tian Yue, Hui Zhang, Ouzhuluobu, Tianyi Wu, Xuebin Qi, Bing Su","doi":"10.1007/s43657-023-00117-x","DOIUrl":"10.1007/s43657-023-00117-x","url":null,"abstract":"<p><p>Blood oxygen saturation (SpO₂) is a key indicator of oxygen availability in the body. It is known that a low SpO₂ at high altitude is associated with morbidity and mortality risks due to physiological hypoxemia. Previously, it was proposed that the lowlander immigrants living at high altitude should have a lower SpO₂ level compared to the highlander natives, but this proposal has not been rigorously tested due to the lack of data from the lowlander immigrants living at high altitude. In this study, we compared arterial oxygen saturation of 5929 Tibetan natives and 1034 Han Chinese immigrants living at altitudes ranging from 1120 m to 5020 m. Unexpectedly, the Han immigrants had a higher SpO₂ than the Tibetan natives at the same high altitudes. At the same time, there is a higher prevalence of chronic mountain sickness in Han than in Tibetans at the same altitude. This result suggests that the relatively higher SpO₂ level of the acclimatized Han is associated with a physiological cost, and the SpO₂ level of Tibetans tends to be sub-optimal. Consequently, SpO₂ alone is not a robust indicator of physiological performance at high altitude.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-023-00117-x.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 4","pages":"329-332"},"PeriodicalIF":3.7,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425305/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10020165","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}

{"title":"A Common Functional Variant at the Enhancer of the Rheumatoid Arthritis Risk Gene <i>ORMDL3</i> Regulates its Expression Through Allele-Specific JunD Binding.","authors":"Wenjing Ye, Yiyun Yu, Xiaoxia Zhu, Weiguo Wan, Yun Liu, Hejian Zou, Zaihua Zhu","doi":"10.1007/s43657-023-00107-z","DOIUrl":"10.1007/s43657-023-00107-z","url":null,"abstract":"<p><p>Genome-wide association studies (GWASs) have identified over 100 loci associated with rheumatoid arthritis (RA); however, the functionally affected genes and the underlying molecular mechanisms contributing to these associations are often unknown. In this study, we conducted an integrative genomic analysis incorporating multiple \"omics\" data and identified a functional regulatory DNA variant, rs56199421, and a plausible mechanism by which it regulates the expression of a putative RA risk gene, <i>ORMDL Sphingolipid Biosynthesis Regulator 3</i> (<i>ORMDL3</i>). The T allele of rs56199421, located in the enhancer region of <i>ORMDL3</i>, exhibited stronger direct binding ability than the other C allele of rs56199421 did in vitro with the transcription factor JunD and demonstrated higher transcriptional activity. Moreover, the T allele of rs56199421 is associated with elevated RA risk, and <i>ORMDL3</i> expression is increased in RA patients. Thus, these findings suggest that the T allele of rs56199421 enhances JunD transcription factor binding, increases enhancer activity, and elevates the expression of the RA risk gene <i>ORMDL3</i>.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-023-00107-z.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 5","pages":"485-495"},"PeriodicalIF":3.7,"publicationDate":"2023-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50163993","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}

{"title":"Integrative Identification by Hi-C Revealed Distinct Advanced Structural Variations in Lung Adenocarcinoma Tissue.","authors":"Tingting Song, Menglin Yao, Ying Yang, Zhiqiang Liu, Li Zhang, Weimin Li","doi":"10.1007/s43657-023-00103-3","DOIUrl":"10.1007/s43657-023-00103-3","url":null,"abstract":"<p><p>Advanced three-dimensional structure variations of chromatin in large genome fragments, such as conversion of A/B compartment, topologically associated domains (TADs) and chromatin loops are related closely to occurrence of malignant tumors. However, the structural characteristics of lung cancer still remain uncovered. In this study, we used high-throughput chromosome (Hi-C) conformation capture technology to detect the advanced structural variations in chromatin of two non-smoking lung adenocarcinoma (LUAD) tumor and paired normal tissues. The results indicate that significant chromatin variations are detected in tumor tissues compared with normal tissues. At compartment scale, the main conversion type of compartment is A → B in tumor tissues, which are concentrated mainly on chromosome 3 (Chr3) (33.6%). A total of 216 tumor-specific TADs are identified in tumor tissues, which are distributed mainly in Chr1 (19), Chr2 (15) and Chr3 (17). Forty-one distinct enhancer-promoter loops are observed in tumor tissue, which are associated closely to tumor-related pathways including mitogen-activated protein kinase (MAPK), Phosphatidylinositol-3-kinase-Protein kinase B (PI3K-AKT), Ras, Wnt and Ras1. The most important observation in this study is that we identify five important genes (<i>SYT16</i>, <i>NCEH1</i>, <i>NXPE3</i>, <i>MB21D2</i>, and <i>DZIP1L</i>), which are detected in both A → B compartment, TADs and chromatin loops in tumor samples, and four of these genes (<i>NCEH1</i>, <i>NXPE3</i>, <i>MB21D2</i>, and <i>DZIP1L</i>) locate on q arm of Chr3. Further gene expression and invasion experiment analysis show that <i>NCEH1</i>, <i>MB21D2</i> and <i>SYT16</i> are involved in the tumor development. Thus, we provide a comprehensive overview of advanced structures in LUAD for the first time and provide a basis for further research on the genetic variation of this tumor.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 4","pages":"390-407"},"PeriodicalIF":3.7,"publicationDate":"2023-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10395630","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}

{"title":"Mycobacteriaceae Phenome Atlas (MPA): A Standardized Atlas for the Mycobacteriaceae Phenome Based on Heterogeneous Sources.","authors":"Wan Liu,&nbsp;Hui Cen,&nbsp;Zhile Wu,&nbsp;Haokui Zhou,&nbsp;Shuo Chen,&nbsp;Xilan Yang,&nbsp;Guoping Zhao,&nbsp;Guoqing Zhang","doi":"10.1007/s43657-023-00101-5","DOIUrl":"10.1007/s43657-023-00101-5","url":null,"abstract":"<p><p>The bacterial family Mycobacteriaceae includes pathogenic and nonpathogenic bacteria, and systematic research on their genome and phenome can give comprehensive perspectives for exploring their disease mechanism. In this study, the phenotypes of Mycobacteriaceae were inferred from available phenomic data, and 82 microbial phenotypic traits were recruited as data elements of the microbial phenome. This Mycobacteriaceae phenome contains five categories and 20 subcategories of polyphasic phenotypes, and three categories and eight subcategories of functional phenotypes, all of which are complementary to the existing data standards of microbial phenotypes. The phenomic data of Mycobacteriaceae strains were compiled by literature mining, third-party database integration, and bioinformatics annotation. The phenotypes were searchable and comparable from the website of the Mycobacteriaceae Phenome Atlas (MPA, https://www.biosino.org/mpa/). A topological data analysis of MPA revealed the co-evolution between <i>Mycobacterium tuberculosis</i> and virulence factors, and uncovered potential pathogenicity-associated phenotypes. Two hundred and sixty potential pathogen-enriched pathways were found by Fisher's exact test. The application of MPA may provide novel insights into the pathogenicity mechanism and antimicrobial targets of Mycobacteriaceae.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-023-00101-5.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 5","pages":"439-456"},"PeriodicalIF":0.0,"publicationDate":"2023-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593683/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50164012","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}

{"title":"Immune-Ageing Evaluation of Peripheral T and NK Lymphocyte Subsets in Chinese Healthy Adults.","authors":"Zhenghu Jia,&nbsp;Zhiyao Ren,&nbsp;Dongmei Ye,&nbsp;Jiawei Li,&nbsp;Yan Xu,&nbsp;Hui Liu,&nbsp;Ziyu Meng,&nbsp;Chengmao Yang,&nbsp;Xiaqi Chen,&nbsp;Xinru Mao,&nbsp;Xueli Luo,&nbsp;Zhe Yang,&nbsp;Lina Ma,&nbsp;Anyi Deng,&nbsp;Yafang Li,&nbsp;Bingyu Han,&nbsp;Junping Wei,&nbsp;Chongcheng Huang,&nbsp;Zheng Xiang,&nbsp;Guobing Chen,&nbsp;Peiling Li,&nbsp;Juan Ouyang,&nbsp;Peisong Chen,&nbsp;Oscar Junhong Luo,&nbsp;Yifang Gao,&nbsp;Zhinan Yin","doi":"10.1007/s43657-023-00106-0","DOIUrl":"10.1007/s43657-023-00106-0","url":null,"abstract":"<p><p>Ageing is often accompanied with a decline in immune system function, resulting in immune ageing. Numerous studies have focussed on the changes in different lymphocyte subsets in diseases and immunosenescence. The change in immune phenotype is a key indication of the diseased or healthy status. However, the changes in lymphocyte number and phenotype brought about by ageing have not been comprehensively analysed. Here, we analysed T and natural killer (NK) cell subsets, the phenotype and cell differentiation states in 43,096 healthy individuals, aged 20-88 years, without known diseases. Thirty-six immune parameters were analysed and the reference ranges of these subsets were established in different age groups divided into 5-year intervals. The data were subjected to random forest machine learning for immune-ageing modelling and confirmed using the neural network analysis. Our initial analysis and machine modelling prediction showed that naïve T cells decreased with ageing, whereas central memory T cells (Tcm) and effector memory T cells (Tem) increased cluster of differentiation (CD) 28-associated T cells. This is the largest study to investigate the correlation between age and immune cell function in a Chinese population, and provides insightful differences, suggesting that healthy adults might be considerably influenced by age and sex. The age of a person's immune system might be different from their chronological age. Our immune-ageing modelling study is one of the largest studies to provide insights into 'immune-age' rather than 'biological-age'. Through machine learning, we identified immune factors influencing the most through ageing and built a model for immune-ageing prediction. Our research not only reveals the impact of age on immune parameter differences within the Chinese population, but also provides new insights for monitoring and preventing some diseases in clinical practice.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-023-00106-0.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 4","pages":"360-374"},"PeriodicalIF":0.0,"publicationDate":"2023-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10020172","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}

{"title":"DBLiPro: A Database for Lipids and Proteins in Human Lipid Metabolism.","authors":"Qian Wu, Yuanyuan Huang, Xiangya Kong, Ben Jia, Xiaoting Lu, Yunqin Chen, Zechi Huang, Yuan-Yuan Li, Wentao Dai","doi":"10.1007/s43657-023-00099-w","DOIUrl":"10.1007/s43657-023-00099-w","url":null,"abstract":"<p><p>To help researchers in the field of biology, medicine, chemistry, and materials science to use lipidomic data conveniently, there is an urgent need to develop a platform that provides a systematic knowledgebase of human lipid metabolism and lipidome-centric omics analysis tools. DBLiPro is a user-friendly webserver allowing for access to human metabolism-related lipids and proteins knowledge database and an interactive bioinformatics integrative analysis workflow for lipidomics, transcriptomics, and proteomics data. In DBLiPro, there are 3109 lipid-associated proteins (LAPs) and 2098 lipid metabolites in the knowledge base section, which were obtained from Uniprot, Kyoto Encyclopedia of Genes and Genomes (KEGG) and were further annotated by information from other public resources in the knowledge base section, such as RaftProt and PubChem. DBLiPro offers a step-by-step interactive analysis workflow for lipidomics, transcriptomics, proteomics, and their integrating multi-omics analysis focusing on the human lipid metabolism. In summary, DBLiPro is capable of helping users discover key molecules (lipids and proteins) in human lipid metabolism and investigate lipid-protein functions underlying mechanisms based on their own omics data. The DBLiPro is freely available at http://lipid.cloudna.cn/home.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 4","pages":"350-359"},"PeriodicalIF":3.7,"publicationDate":"2023-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10020167","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}

{"title":"Overview of a Sleep Monitoring Protocol for a Large Natural Population.","authors":"Minghui Liu,&nbsp;Hangyu Zhu,&nbsp;Jinbu Tang,&nbsp;Hongyu Chen,&nbsp;Chen Chen,&nbsp;Jingchun Luo,&nbsp;Wei Chen","doi":"10.1007/s43657-023-00102-4","DOIUrl":"https://doi.org/10.1007/s43657-023-00102-4","url":null,"abstract":"<p><p>A standard operating procedure for studying the sleep phenotypes in a large population cohort is proposed. It is intended for academic researchers in investigating the sleep phenotypes in conjunction with the clinical sleep disorders assessment guidelines. The protocol refers to the definitive American Academy of Sleep Medicine (AASM) manual for setting polysomnography (PSG) technical specifications, scoring of sleep and associated events, etc. On this basis, it not only provides a standardized procedure of sleep interview, sleep-relevant questionnaires, and laboratory-based PSG test, but also offers a comprehensive process of sleep data analysis, phenotype extraction, and data storage. Both the objective sleep data recorded by PSG test and subjective sleep information obtained by the sleep interview and sleep questionnaires are involved in the data acquisition procedure. Subsequently, sleep phenotypes can be characterized by observable/inconspicuous physiological patterns during sleep from PSG test or can be marked by sleeping habits like sleep quality, sleep latency, sleep duration, habitual sleep efficiency, sleep disturbances, daytime dysfunction, etc., from sleep interview or questionnaires derived. In addition, solutions to the problems that may be encountered during the protocol are summarized and addressed. With the protocol, it can significantly improve scientific research efficiency and reduce unnecessary workload in large population cohort studies. Moreover, it is also expected to provide a valuable reference for researchers to conduct systematic sleep research.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":" ","pages":"1-18"},"PeriodicalIF":0.0,"publicationDate":"2023-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10163293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9719877","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}

{"title":"RNA-Sequencing Reveals Gene Expression and Pathway Signatures in Umbilical Cord Blood Affected by Birth Delivery Mode.","authors":"Yongjie Liu, Kun Sun, Yuexin Gan, Han Liu, Juehua Yu, Wei Xu, Lin Zhang, Dan Chen","doi":"10.1007/s43657-022-00086-7","DOIUrl":"10.1007/s43657-022-00086-7","url":null,"abstract":"<p><p>Cesarean section (CS) confers increased risk of type I diabetes, asthma, inflammatory bowel disease, celiac disease, overweight and obesity, etc., in the offspring. However, the underlying mechanism remains unknown. To investigate the influence of CS on gene expression in cord blood, we have performed RNA-sequencing followed by single-gene analysis, gene set enrichment analysis, gene co-expression network analysis, and interacting genes/proteins analysis in eight full-term infants born by elective CS and eight matched vaginally delivered (VD) infants. Crucial genes identified above were further validated in another 20 CS and 20 VD infants. We found for the first time that mRNA expression of genes involved in immune response (<i>IL12A</i><i>,</i> <i>INFG</i>, <i>IL1B</i>, <i>TNF</i>, <i>MIF</i>, <i>IL4</i>, <i>CA1, IFI27, HLA-DOB</i> and <i>EPHB1</i>) and metabolism (<i>DLK1</i>, <i>CYP2A6</i> and <i>GATM</i>) were significantly influenced by CS. Notably, serum TNF-α and IFN-γ were remarkably up-regulated in the CS infants (<i>p</i> = 5.0 × 10^-4 and 3.0 × 10^-3, respectively) compared to the VD infants. It is biologically plausible that CS may exert adverse impacts on offspring health through influencing expression of genes in the above processes. These findings will help understand the potential underlying mechanisms of the adverse health impacts of CS and identify biomarkers for future health of offspring born with different delivery modes.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-022-00086-7.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 3","pages":"228-242"},"PeriodicalIF":0.0,"publicationDate":"2023-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10260732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9661056","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}

{"title":"Genetic Phenotypes of Alzheimer's Disease: Mechanisms and Potential Therapy.","authors":"Meina Quan,&nbsp;Shuman Cao,&nbsp;Qi Wang,&nbsp;Shiyuan Wang,&nbsp;Jianping Jia","doi":"10.1007/s43657-023-00098-x","DOIUrl":"10.1007/s43657-023-00098-x","url":null,"abstract":"<p><p>Years of intensive research has brought us extensive knowledge on the genetic and molecular factors involved in Alzheimer's disease (AD). In addition to the mutations in the three main causative genes of familial AD (FAD) including <i>presenilins</i> and <i>amyloid precursor protein</i> genes, studies have identified several genes as the most plausible genes for the onset and progression of FAD, such as <i>triggering receptor expressed on myeloid cells 2</i>, <i>sortilin-related receptor 1</i>, and <i>adenosine triphosphate-binding cassette transporter subfamily A member 7</i>. The <i>apolipoprotein E ε4</i> allele is reported to be the strongest genetic risk factor for sporadic AD (SAD), and it also plays an important role in FAD. Here, we reviewed recent developments in genetic and molecular studies that contributed to the understanding of the genetic phenotypes of FAD and compared them with SAD. We further reviewed the advancements in AD gene therapy and discussed the future perspectives based on the genetic phenotypes.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 4","pages":"333-349"},"PeriodicalIF":0.0,"publicationDate":"2023-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425323/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10020171","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}