Advances in Genetics最新文献

Genetic underpinnnings of type 2 diabetes. 2型糖尿病的遗传基础。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-01-31 DOI: 10.1016/bs.adgen.2024.12.001

Aditya Shah, Clancy O Bush, Rachel J Perry

{"title":"Genetic underpinnnings of type 2 diabetes.","authors":"Aditya Shah, Clancy O Bush, Rachel J Perry","doi":"10.1016/bs.adgen.2024.12.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2024.12.001","url":null,"abstract":"Genetics is a significant risk factor for developing type 2 diabetes, with a family history conferring a 1.5-3-fold increased risk. Intriguingly, this heritable risk is higher when the affected parent is the mother, suggesting a potential role of mitochondrial genetics -maternally inherited DNA - in diabetes pathogenesis, a hypothesis this chapter will explore. While obesity mediates some of the genetic risk of type 2 diabetes, the chapter and will focus on genetic influences on diabetes independent of obesity. Mechanistically, genetic variants directly or indirectly contribute to insulin resistance across key tissues, including liver, muscle and adipose tissue. This insulin resistance prevents the liver from efficiently suppressing glucose production in response to insulin and impairs glucose uptake in muscle during postprandial states. Insulin resistance is driven by complex interactions between the genome and environmental, which can, in turn, influence gene expression and contribute to worsening of metabolic dysfunction. This chapter examines how tissue-specific genetic changes drive insulin resistance in individual organs and how these localized dysfunctions contribute to the broader, multi-organ metabolic dysfunction that characterize type 2 diabetes.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"113 ","pages":"54-75"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Retinal physiology in metabolic syndrome. 代谢综合征的视网膜生理学。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-02-05 DOI: 10.1016/bs.adgen.2024.11.002

David Meseguer García

引用次数: 0

Crosstalk between T cell gene regulation and intestinal epithelial cells: Insights into mucosal immunity. T细胞基因调控与肠上皮细胞间的串扰：对粘膜免疫的认识。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-04-15 DOI: 10.1016/bs.adgen.2025.03.002

Dora Bordoni, Antonella Fazio

{"title":"Crosstalk between T cell gene regulation and intestinal epithelial cells: Insights into mucosal immunity.","authors":"Dora Bordoni, Antonella Fazio","doi":"10.1016/bs.adgen.2025.03.002","DOIUrl":"10.1016/bs.adgen.2025.03.002","url":null,"abstract":"The intestinal epithelium serves as a critical mechanical barrier against potentially pathogenic bacteria and their antigens while maintaining immune homeostasis and facilitating nutrient and water absorption. In the gut, T cells undergo a multitude of highly specialized differentiation processes which are influenced by the unique microenvironment. Several studies reveal that intestinal epithelial cells (IECs) not only provide signals that shape T cell responses but also express a variety of factors that modulate T cell activity, such as cytokines, chemokines, and antigen-presenting molecules. The crosstalk between T cells and intestinal epithelium is necessary to grant a delicate immune balance to prevent excessive inflammation while assuring tolerance towards commensal microbial communities. Disruption of this line of communication can be deleterious since it could lead to immune-inflammatory disorders such as inflammatory bowel disease (IBD) and other disorders such as colorectal cancer. In recent years, advanced genomic and transcriptomic technologies have partially untangled the regulatory networks underlying this interaction. Understanding how the mechanisms governing the regulation of the interaction between T cells and IECs offers potential therapeutic hints for enhancing mucosal immunity and treating related diseases affecting gastrointestinal health. This chapter explores the key cellular players of mucosal immunity and the importance of epithelial-T cell interactions for immune regulation and potential therapeutic applications.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"114 ","pages":"23-65"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144862651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Understanding the link between regulatory RNA regions and genomic variation in coeliac disease. 了解调节RNA区域与乳糜泻基因组变异之间的联系。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-03-07 DOI: 10.1016/bs.adgen.2025.02.005

Izei Pascual-González, Izortze Santin, Ainara Castellanos-Rubio

{"title":"Understanding the link between regulatory RNA regions and genomic variation in coeliac disease.","authors":"Izei Pascual-González, Izortze Santin, Ainara Castellanos-Rubio","doi":"10.1016/bs.adgen.2025.02.005","DOIUrl":"10.1016/bs.adgen.2025.02.005","url":null,"abstract":"Coeliac disease (CD) is a chronic immune-mediated inflammatory disorder triggered by dietary gluten ingestion in genetically predisposed individuals. While gluten-specific T cells and HLA-DQ2/DQ8 alleles are critical to the disease onset, they account for less than half of the genetic heritability, underscoring the complexity of CD's genetic underpinnings. Genome-Wide Association Studies (GWAS) and next-generation sequencing have identified 42 non-HLA loci associated with CD risk, yet the molecular mechanisms underlying these associations remain largely unexplored. Notably, most disease-associated single nucleotide polymorphisms (SNPs) associated with CD are located in non-coding genomic regions, highlighting the regulatory potential of these variants. Emerging evidence demonstrates that non-coding RNAs (ncRNAs), particularly microRNAs and long non-coding RNAs, play crucial roles in gene regulation and disease development. Recent advances in transcriptomics have revealed new transcribed regions of the genome, shedding light on the functional significance of previously unannotated sequences. This review discusses the contribution of non-coding SNPs located in regulatory RNA regions to CD development, emphasizing the role of long non-coding RNAs and their potential as therapeutic targets.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"114 ","pages":"67-99"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144862655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Preface. 前言。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 DOI: 10.1016/S0065-2660(25)00026-4

引用次数: 0

Advances in energy balance & metabolism circuitry. 能量平衡与代谢电路的研究进展。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-03-06 DOI: 10.1016/bs.adgen.2025.02.003

Jose G Grajales-Reyes

引用次数: 0

Parkinson's disease and metabolic disorders, understanding their shared co-morbidity through the autonomic nervous system. 帕金森氏病和代谢性疾病，通过自主神经系统了解它们的共同发病率。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-03-06 DOI: 10.1016/bs.adgen.2025.02.001

Thanh N Pham, Rebecca E Schelling, Ken H Loh

{"title":"Parkinson's disease and metabolic disorders, understanding their shared co-morbidity through the autonomic nervous system.","authors":"Thanh N Pham, Rebecca E Schelling, Ken H Loh","doi":"10.1016/bs.adgen.2025.02.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2025.02.001","url":null,"abstract":"Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor dysfunctions. Its pathological hallmark is the aggregation of ɑ-synuclein in the central nervous system (CNS), leading to widespread loss of dopaminergic neurons in the substantia nigra (SN). Interestingly, metabolic disorders localized in the periphery, such as diabetes mellitus, frequently co-occur with PD. Emerging evidence highlights a bidirectional relationship: metabolic diseases may accelerate PD progression, while PD can exacerbate metabolic dysfunction. Beyond these associations, a growing body of research suggests that dysfunction in the peripheral nervous system, the primary communication bridge between the brain and peripheral organs, plays a critical role in these comorbidities. Autonomic nerve perturbation may accelerate dopaminergic neuronal loss in the SN and exacerbate metabolic dysregulation. This chapter synthesizes current evidence linking autonomic dysfunction with the progression of PD and related metabolic disorders, and it explores innovative therapeutic strategies leveraging this bidirectional relationship to address PD progression.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"113 ","pages":"199-247"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Disentangling the multi-omics layers of complex traits: Celiac disease as a model. 解开复杂特征的多组学层：作为模型的乳糜泻。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-08-08 DOI: 10.1016/bs.adgen.2025.07.001

Juliana Xavier de Miranda Cerqueira

{"title":"Disentangling the multi-omics layers of complex traits: Celiac disease as a model.","authors":"Juliana Xavier de Miranda Cerqueira","doi":"10.1016/bs.adgen.2025.07.001","DOIUrl":"10.1016/bs.adgen.2025.07.001","url":null,"abstract":"The post-genomic era has ushered in a transformative shift in biomedical research, driven by the integration of multi-omics technologies and advanced computational tools. While genome-wide association studies (GWAS) have identified thousands of variants linked to complex traits and diseases, the majority of these lie in non-coding regions, where their functional roles remain elusive. This chapter explores how fine-mapping, functional genomics, and systems biology are converging to bridge this gap, moving from statistical associations to mechanistic insights. Using celiac disease as a model, we illustrate how genomic, transcriptomic, epigenomic, and proteomic data can be harmonized to identify causal variants, prioritize candidate genes, and map regulatory networks that drive disease pathogenesis. We highlight the power of fine-mapping in refining GWAS signals and the importance of integrating chromatin accessibility, QTL colocalization, and single-cell omics to contextualize genetic risk within specific cellular environments. The chapter also discusses the promise of polygenic risk scores, the role of metabolomics in capturing functional phenotypes, and the emergence of single-cell and spatial technologies in revealing disease heterogeneity. Despite these advances, challenges remain-including data heterogeneity, computational complexity, and the underrepresentation of non-European populations in genomic studies. Addressing these issues will be critical for ensuring the equity and clinical utility of precision medicine. Ultimately, this chapter underscores the transformative potential of translational genomics. By connecting genetic variation to molecular function and clinical outcome, multi-omics approaches are paving the way for more predictive, preventive, and personalized healthcare-particularly in the context of autoimmune and other complex diseases.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"114 ","pages":"141-187"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144862652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Neural mechanisms and health implications of food cravings during pregnancy. 怀孕期间食物渴望的神经机制和健康影响。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-01-31 DOI: 10.1016/bs.adgen.2024.12.002

Ayako Nakaki, Fàtima Crispi, Francesca Crovetto, Roberta Haddad-Tóvolli

{"title":"Neural mechanisms and health implications of food cravings during pregnancy.","authors":"Ayako Nakaki, Fàtima Crispi, Francesca Crovetto, Roberta Haddad-Tóvolli","doi":"10.1016/bs.adgen.2024.12.002","DOIUrl":"https://doi.org/10.1016/bs.adgen.2024.12.002","url":null,"abstract":"Food cravings, an intense desire to consume specific foods, are a complex interplay of cognitive, emotional, behavioral, physiological, and cultural factors. Although prevalent across genders, food cravings are more frequent and intense in women, with hormonal fluctuations-particularly during the menstrual cycle and pregnancy-playing a significant role. Pregnancy, marked by profound hormonal and physiological shifts, often heightens cravings, likely as a response to the increased metabolic needs of both mother and fetus. However, the tendency to crave high-calorie, palatable foods during this time can lead to excessive weight gain, presenting potential risks to both maternal and fetal health. This chapter examines the neural mechanisms underlying altered eating behaviors during pregnancy and their role in triggering food cravings. We discuss the health implications of disrupted eating patterns in pregnancy, emphasizing the need for further research to advance understanding of female-specific neurobiology and to develop targeted interventions that support healthy eating behaviors, ultimately improving maternal and offspring health outcomes.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"113 ","pages":"146-171"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Interplay between the host genome, autoimmune disease and infection. 宿主基因组、自身免疫性疾病和感染之间的相互作用。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-03-07 DOI: 10.1016/bs.adgen.2025.02.006

María Isabel San-Martín, África Sanchiz, Nicolas Navasa

引用次数: 0