University of Oulu

Tisham De, Angela Goncalves, Doug Speed, Philippe Froguel, Daniel J. Gaffney, Michael R. Johnson, Marjo-Riitta Jarvelin, Lachlan JM. Coin, Signatures of TSPAN8 variants associated with human metabolic regulation and diseases, iScience, Volume 24, Issue 8, 2021, 102893, ISSN 2589-0042,

Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

Saved in:
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:
Language: English
Published: Elsevier, 2021
Publish Date: 2021-11-02


Here, 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

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
Type of Publication: A1 Journal article – refereed
Field of Science: 3111 Biomedicine
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 (