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Signatures of TSPAN8 variants associated with human metabolic regulation and diseases.


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 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.

SUBMITTER: De T 

PROVIDER: S-EPMC8355918 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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Signatures of TSPAN8 variants associated with human metabolic regulation and diseases.

De Tisham T   Goncalves Angela A   Speed Doug D   Froguel Philippe P   Gaffney Daniel J DJ   Johnson Michael R MR   Jarvelin Marjo-Riitta MR   Coin Lachlan Jm LJ  

iScience 20210722 8


Here, with the example of common copy number variation (CNV) in the <i>TSPAN8</i> gene, we present an important piece of work in the field of CNV detection, that is, CNV association with complex human traits such as <sup>1</sup>H NMR metabolomic phenotypes and an example of functional characterization of CNVs among human induced pluripotent stem cells (HipSci). We report <i>TSPAN8</i> exon 11 (ENSE00003720745) as a pleiotropic locus associated with metabolomic regulation and show that its biolog  ...[more]

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