Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

Tisham De; Angela Goncalves; Doug Speed; Philippe Froguel; NFBC consortium; Daniel J Gaffney; Michael R Johnson; Marjo-Riitta Jarvelin; Lachlan Jm Coin

doi:10.1016/j.isci.2021.102893

Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

Tisham De, Angela Goncalves, Doug Speed, Philippe Froguel, NFBC consortium, Daniel J Gaffney, Michael R Johnson, Marjo-Riitta Jarvelin, Lachlan Jm Coin

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

6 Citations (Scopus)

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.

Original language	English
Article number	102893
Journal	iScience
Volume	24
Issue	8
Number of pages	16
ISSN	2589-0042
DOIs	https://doi.org/10.1016/j.isci.2021.102893
Publication status	Published - 20 Aug 2021

Keywords

Biological sciences
Cancer systems biology
Endocrinology
Molecular biology
Physiology

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title = "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.",

keywords = "Biological sciences, Cancer systems biology, Endocrinology, Molecular biology, Physiology",

author = "Tisham De and Angela Goncalves and Doug Speed and Philippe Froguel and {NFBC consortium} and Gaffney, {Daniel J} and Johnson, {Michael R} and Marjo-Riitta Jarvelin and Coin, {Lachlan Jm}",

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T1 - Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

AU - De, Tisham

AU - Goncalves, Angela

AU - Speed, Doug

AU - Froguel, Philippe

AU - NFBC consortium

AU - Gaffney, Daniel J

AU - Johnson, Michael R

AU - Jarvelin, Marjo-Riitta

AU - Coin, Lachlan Jm

PY - 2021/8/20

Y1 - 2021/8/20

N2 - 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.

AB - 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.

KW - Biological sciences

KW - Cancer systems biology

KW - Endocrinology

KW - Molecular biology

KW - Physiology

U2 - 10.1016/j.isci.2021.102893

DO - 10.1016/j.isci.2021.102893

M3 - Journal article

C2 - 34401672

SN - 2589-0042

VL - 24

JO - iScience

JF - iScience

IS - 8

M1 - 102893

ER -

Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

Abstract

Keywords

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