LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 361

Search options

  1. Book: Assessing rare variation in complex traits

    Zeggini, Eleftheria / Morris, Andrew

    design and analysis of genetic studies

    2015  

    Author's details Eleftheri Zeggini ; Andrew Morris ed
    Language English
    Size XI, 261 S. : Ill., graph. Darst.
    Publisher Springer
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT018743866
    ISBN 978-1-4939-2823-1 ; 9781493928248 ; 1-4939-2823-6 ; 1493928244
    Database Catalogue ZB MED Medicine, Health

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2015 A 3167 available for loan (reading room) Lesesaal EG

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Book ; Online: Assessing Rare Variation in Complex Traits : Design and Analysis of Genetic Studies

    Zeggini, Eleftheria / Morris, Andrew

    2015  

    Keywords Medical genetics ; genetic studies
    Size 1 electronic resource (263 pages)
    Publisher Springer Nature
    Publishing place New York
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT021047726
    ISBN 9781493928248 ; 1493928244
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  3. Article ; Online: Advancing equity in human genomics through tissue-specific multi-ancestry molecular data.

    Arruda, Ana Luiza / Morris, Andrew P / Zeggini, Eleftheria

    Cell genomics

    2024  Volume 4, Issue 2, Page(s) 100485

    Abstract: There is a pressing need to generate molecular data from diverse tissues across global populations. These currently missing data are necessary to resolve genome-wide association study loci, identify effector genes, and move the translational genomics ... ...

    Abstract There is a pressing need to generate molecular data from diverse tissues across global populations. These currently missing data are necessary to resolve genome-wide association study loci, identify effector genes, and move the translational genomics needle beyond European-ancestry individuals and the minority of diseases for which blood is the relevant tissue.
    MeSH term(s) Humans ; Genome-Wide Association Study ; Minority Groups ; Genomics
    Language English
    Publishing date 2024-01-24
    Publishing country United States
    Document type Journal Article
    ISSN 2666-979X
    ISSN (online) 2666-979X
    DOI 10.1016/j.xgen.2023.100485
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  4. Article ; Online: Unravelling the genetic architecture of human complex traits through whole genome sequencing.

    Bocher, Ozvan / Willer, Cristen J / Zeggini, Eleftheria

    Nature communications

    2023  Volume 14, Issue 1, Page(s) 3520

    MeSH term(s) Humans ; Multifactorial Inheritance ; Whole Genome Sequencing
    Language English
    Publishing date 2023-06-14
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-023-39259-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article: Insights from multi-omics integration in complex disease primary tissues.

    Kreitmaier, Peter / Katsoula, Georgia / Zeggini, Eleftheria

    Trends in genetics : TIG

    2022  Volume 39, Issue 1, Page(s) 46–58

    Abstract: Genome-wide association studies (GWAS) have provided insights into the genetic basis of complex diseases. In the next step, integrative multi-omics approaches can characterize molecular profiles in relevant primary tissues to reveal the mechanisms that ... ...

    Abstract Genome-wide association studies (GWAS) have provided insights into the genetic basis of complex diseases. In the next step, integrative multi-omics approaches can characterize molecular profiles in relevant primary tissues to reveal the mechanisms that underlie disease development. Here, we highlight recent progress in four examples of complex diseases generated by integrative studies: type 2 diabetes (T2D), osteoarthritis, Alzheimer's disease (AD), and systemic lupus erythematosus (SLE). High-resolution methodologies such as single-cell and spatial omics techniques will become even more important in the future. Furthermore, we emphasize the urgent need to include as yet understudied cell types and increase the diversity of studied populations.
    MeSH term(s) Humans ; Genome-Wide Association Study ; Diabetes Mellitus, Type 2/genetics ; Multiomics
    Language English
    Publishing date 2022-09-19
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 619240-3
    ISSN 1362-4555 ; 0168-9525 ; 0168-9479
    ISSN (online) 1362-4555
    ISSN 0168-9525 ; 0168-9479
    DOI 10.1016/j.tig.2022.08.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2272: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis.

    Wilkinson, J Mark / Zeggini, Eleftheria

    Calcified tissue international

    2020  Volume 109, Issue 3, Page(s) 257–276

    Abstract: Congruent, low-friction relative movement between the articulating elements of a synovial joint is an essential pre-requisite for sustained, efficient, function. Where disorders of joint formation or maintenance exist, mechanical overloading and ... ...

    Abstract Congruent, low-friction relative movement between the articulating elements of a synovial joint is an essential pre-requisite for sustained, efficient, function. Where disorders of joint formation or maintenance exist, mechanical overloading and osteoarthritis (OA) follow. The heritable component of OA accounts for ~ 50% of susceptible risk. Although almost 100 genetic risk loci for OA have now been identified, and the epidemiological relationship between joint development, joint shape and osteoarthritis is well established, we still have only a limited understanding of the contribution that genetic variation makes to joint shape and how this modulates OA risk. In this article, a brief overview of synovial joint development and its genetic regulation is followed by a review of current knowledge on the genetic epidemiology of established joint shape disorders and common shape variation. A summary of current genetic epidemiology of OA is also given, together with current evidence on the genetic overlap between shape variation and OA. Finally, the established genetic risk loci for both joint shape and osteoarthritis are discussed.
    MeSH term(s) Humans ; Molecular Epidemiology ; Osteoarthritis/epidemiology ; Osteoarthritis/genetics
    Language English
    Publishing date 2020-05-11
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 304266-2
    ISSN 1432-0827 ; 0944-0747 ; 0008-0594 ; 0171-967X
    ISSN (online) 1432-0827
    ISSN 0944-0747 ; 0008-0594 ; 0171-967X
    DOI 10.1007/s00223-020-00702-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 317: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  7. Article: Using genetically isolated populations to understand the genomic basis of disease.

    Zeggini, Eleftheria

    Genome medicine

    2014  Volume 6, Issue 10, Page(s) 83

    Abstract: Rare variation has a key role in the genetic etiology of complex traits. Genetically isolated populations have been established as a powerful resource for novel locus discovery and they combine advantageous characteristics that can be leveraged to ... ...

    Abstract Rare variation has a key role in the genetic etiology of complex traits. Genetically isolated populations have been established as a powerful resource for novel locus discovery and they combine advantageous characteristics that can be leveraged to expedite discovery. Genome-wide genotyping approaches coupled with sequencing efforts have transformed the landscape of disease genomics and highlight the potentially significant contribution of studies in founder populations.
    Language English
    Publishing date 2014
    Publishing country England
    Document type Journal Article
    ZDB-ID 2484394-5
    ISSN 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-014-0083-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  8. Article ; Online: Epigenomic profiling of the infrapatellar fat pad in osteoarthritis.

    Kreitmaier, Peter / Park, Young-Chan / Swift, Diane / Gilly, Arthur / Wilkinson, J Mark / Zeggini, Eleftheria

    Human molecular genetics

    2023  Volume 33, Issue 6, Page(s) 501–509

    Abstract: Osteoarthritis is a prevalent, complex disease of the joints, and affects multiple intra-articular tissues. Here, we have examined genome-wide DNA methylation profiles of primary infrapatellar fat pad and matched blood samples from 70 osteoarthritis ... ...

    Abstract Osteoarthritis is a prevalent, complex disease of the joints, and affects multiple intra-articular tissues. Here, we have examined genome-wide DNA methylation profiles of primary infrapatellar fat pad and matched blood samples from 70 osteoarthritis patients undergoing total knee replacement surgery. Comparing the DNA methylation profiles between these tissues reveal widespread epigenetic differences. We produce the first genome-wide methylation quantitative trait locus (mQTL) map of fat pad, and make the resource available to the wider community. Using two-sample Mendelian randomization and colocalization analyses, we resolve osteoarthritis GWAS signals and provide insights into the molecular mechanisms underpinning disease aetiopathology. Our findings provide the first view of the epigenetic landscape of infrapatellar fat pad primary tissue in osteoarthritis.
    MeSH term(s) Humans ; Epigenomics ; Adipose Tissue ; Epigenesis, Genetic ; Osteoarthritis ; Protein Processing, Post-Translational
    Language English
    Publishing date 2023-11-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddad198
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3469: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  9. Article ; Online: Genomic insights into the comorbidity between type 2 diabetes and schizophrenia.

    Arruda, Ana Luiza / Khandaker, Golam M / Morris, Andrew P / Smith, George Davey / Huckins, Laura M / Zeggini, Eleftheria

    Schizophrenia (Heidelberg, Germany)

    2024  Volume 10, Issue 1, Page(s) 22

    Abstract: Multimorbidity represents an increasingly important public health challenge with far-reaching implications for health management and policy. Mental health and metabolic diseases have a well-established epidemiological association. In this study, we ... ...

    Abstract Multimorbidity represents an increasingly important public health challenge with far-reaching implications for health management and policy. Mental health and metabolic diseases have a well-established epidemiological association. In this study, we investigate the genetic intersection between type 2 diabetes and schizophrenia. We use Mendelian randomization to examine potential causal relationships between the two conditions and related endophenotypes. We report no compelling evidence that type 2 diabetes genetic liability potentially causally influences schizophrenia risk and vice versa. Our findings show that increased body mass index (BMI) has a protective effect against schizophrenia, in contrast to the well-known risk-increasing effect of BMI on type 2 diabetes risk. We identify evidence of colocalization of association signals for these two conditions at 11 genomic loci, six of which have opposing directions of effect for type 2 diabetes and schizophrenia. To elucidate these colocalizing signals, we integrate multi-omics data from bulk and single-cell gene expression studies, along with functional information. We identify putative effector genes and find that they are enriched for homeostasis and lipid-related pathways. We also highlight drug repurposing opportunities including N-methyl-D-aspartate (NMDA) receptor antagonists. Our findings provide insights into shared biological mechanisms for type 2 diabetes and schizophrenia, highlighting common factors that influence the risk of the two conditions in opposite directions and shedding light on the complex nature of this comorbidity.
    Language English
    Publishing date 2024-02-21
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 3133210-9
    ISSN 2754-6993 ; 2754-6993
    ISSN (online) 2754-6993
    ISSN 2754-6993
    DOI 10.1038/s41537-024-00445-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article ; Online: Genome-wide meta-analysis of 92 cardiometabolic protein serum levels.

    Gilly, Arthur / Park, Young-Chan / Tsafantakis, Emmanouil / Karaleftheri, Maria / Dedoussis, George / Zeggini, Eleftheria

    Molecular metabolism

    2023  Volume 78, Page(s) 101810

    Abstract: Objectives: Global cardiometabolic disease prevalence has grown rapidly over the years, making it the leading cause of death worldwide. Proteins are crucial components in biological pathways dysregulated in disease states. Identifying genetic components ...

    Abstract Objectives: Global cardiometabolic disease prevalence has grown rapidly over the years, making it the leading cause of death worldwide. Proteins are crucial components in biological pathways dysregulated in disease states. Identifying genetic components that influence circulating protein levels may lead to the discovery of biomarkers for early stages of disease or offer opportunities as therapeutic targets.
    Methods: Here, we carry out a genome-wide association study (GWAS) utilising whole genome sequencing data in 3,005 individuals from the HELIC founder populations cohort, across 92 proteins of cardiometabolic relevance.
    Results: We report 322 protein quantitative trait loci (pQTL) signals across 92 proteins, of which 76 are located in or near the coding gene (cis-pQTL). We link those association signals with changes in protein expression and cardiometabolic disease risk using colocalisation and Mendelian randomisation (MR) analyses.
    Conclusions: The majority of previously unknown signals we describe point to proteins or protein interactions involved in inflammation and immune response, providing genetic evidence for the contributing role of inflammation in cardiometabolic disease processes.
    MeSH term(s) Humans ; Genome-Wide Association Study ; Genetic Predisposition to Disease ; Quantitative Trait Loci/genetics ; Blood Proteins ; Inflammation/genetics ; Cardiovascular Diseases/genetics
    Chemical Substances Blood Proteins
    Language English
    Publishing date 2023-09-29
    Publishing country Germany
    Document type Meta-Analysis ; Journal Article
    ZDB-ID 2708735-9
    ISSN 2212-8778 ; 2212-8778
    ISSN (online) 2212-8778
    ISSN 2212-8778
    DOI 10.1016/j.molmet.2023.101810
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top