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Signatures of TSPAN8 variants associated with human metabolic regulation and diseases.
- Source :
-
IScience [iScience] 2021 Jul 22; Vol. 24 (8), pp. 102893. Date of Electronic Publication: 2021 Jul 22 (Print Publication: 2021). - Publication Year :
- 2021
-
Abstract
- 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 <superscript>1</superscript> H 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 .<br />Competing Interests: No external or financial interests to be declared.<br /> (© 2021 The Author(s).)
Details
- Language :
- English
- ISSN :
- 2589-0042
- Volume :
- 24
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- IScience
- Publication Type :
- Academic Journal
- Accession number :
- 34401672
- Full Text :
- https://doi.org/10.1016/j.isci.2021.102893