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Elsevier, Molecular and Cellular Endocrinology

DOI: 10.1016/j.mce.2016.03.020

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Functional characterisation of ADIPOQ variants using individuals recruited by genotype

This paper is available in a repository.
This paper is available in a repository.

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Abstract

Published ; Journal Article ; This is the author accepted manuscript. The final version is available from Elsevier via the DOI in this record. ; Four non-coding GWAS variants in or near the ADIPOQ gene (rs17300539, rs17366653, rs3821799 and rs56354395) together explain 4% of the variation in circulating adiponectin. The functional basis for this is unknown. We tested the effect of these variants on ADIPOQ transcription, splicing and stability respectively in adipose tissue samples from participants recruited by rs17366653 genotype. Transcripts carrying rs17300539 demonstrated a 17% increase in expression (p = 0.001). Variant rs17366653 was associated with disruption of ADIPOQ splicing leading to a 7 fold increase in levels of a non-functional transcript (p = 0.002). Transcripts carrying rs56354395 demonstrated a 59% decrease in expression (p =