Signatures of TSPAN8 variants associated with human metabolic regulation and diseases |
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Author: | De, Tisham1,2,3; Goncalves, Angela4,5; Speed, Doug6,7,8; |
Organizations: |
1Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK 2Department of Genomics of Common Diseases, Imperial College London, London, UK 3Department of Metabolism, Imperial College London, London, UK
4Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
5German Cancer Research Center (DKFZ) and DKFZ-ZMBH Alliance, 69120 Heidelberg, Germany 6Bioinformatics Research Centre (BiRC), Aarhus University, Aarhus, Denmark 7Aarhus Institute of Advanced Studies (AIAS), Aarhus University, Aarhus, Denmark 8Quantitative Genetics and Genomics (QGG), Aarhus University, Aarhus, Denmark 9Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Université de Lille, Institut Pasteur de Lille, Lille University Hospital, Lille, France 10Department of Brain Sciences, Imperial College London, London, UK 11Centre for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland 12Unit of Primary Health Care and Medical Research Center, Oulu University Hospital, Oulu, Finland 13Department of Epidemiology and Biostatistics, Medical Research Council–Public Health England Centre for Environment and Health, Imperial College London, London, UK 14Biocenter Oulu, University of Oulu, Oulu, Finland 15Department of Microbiology and Immunology, University of Melbourne at The Peter Doherty Institute for Infection and Immunity, Melbourne, Australia |
Format: | article |
Version: | published version |
Access: | open |
Online Access: | PDF Full Text (PDF, 3.7 MB) |
Persistent link: | http://urn.fi/urn:nbn:fi-fe2021110253257 |
Language: | English |
Published: |
Elsevier,
2021
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Publish Date: | 2021-11-02 |
Description: |
SummaryHere, with the example of common copy number variation (CNV) in the TSPAN8 gene, we present an important piece of work in the field of CNV detection, that is, CNV association with complex human traits such as ¹H NMR metabolomic phenotypes and an example of functional characterization of CNVs among human induced pluripotent stem cells (HipSci). We report TSPAN8 exon 11 (ENSE00003720745) as a pleiotropic locus associated with metabolomic regulation and show that its biology is associated with several metabolic diseases such as type 2 diabetes (T2D) and cancer. Our results further demonstrate the power of multivariate association models over univariate methods and define metabolomic signatures for variants in TSPAN8. see all
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Series: |
iScience |
ISSN: | 2589-0042 |
ISSN-E: | 2589-0042 |
ISSN-L: | 2589-0042 |
Volume: | 24 |
Issue: | 8 |
Article number: | 102893 |
DOI: | 10.1016/j.isci.2021.102893 |
OADOI: | https://oadoi.org/10.1016/j.isci.2021.102893 |
Type of Publication: |
A1 Journal article – refereed |
Field of Science: |
3111 Biomedicine |
Subjects: | |
Funding: |
Dr Tisham De was supported by Imperial College London School of Public Health PhD scholarship from 2011 to 2014. |
Copyright information: |
© 2021 The Author(s). This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
https://creativecommons.org/licenses/by-nc-nd/4.0/ |