Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

Jason C. Klein; Aidan Keith; Sarah J. Rice; Colin Shepherd; Vikram Agarwal; John Loughlin; Jay Shendure

doi:10.1038/s41467-019-10439-y

Nature Communications (Jun 2019)

Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

Jason C. Klein,
Aidan Keith,
Sarah J. Rice,
Colin Shepherd,
Vikram Agarwal,
John Loughlin,
Jay Shendure

Affiliations

Jason C. Klein: Department of Genome Sciences, University of Washington
Aidan Keith: Department of Genome Sciences, University of Washington
Sarah J. Rice: Skeletal Research Group, Institute of Genetic Medicine, Newcastle University, International Centre for Life
Colin Shepherd: Skeletal Research Group, Institute of Genetic Medicine, Newcastle University, International Centre for Life
Vikram Agarwal: Department of Genome Sciences, University of Washington
John Loughlin: Skeletal Research Group, Institute of Genetic Medicine, Newcastle University, International Centre for Life
Jay Shendure: Department of Genome Sciences, University of Washington

DOI: https://doi.org/10.1038/s41467-019-10439-y
Journal volume & issue: Vol. 10, no. 1
pp. 1 – 9

Abstract

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GWAS have identified risk loci for osteoarthritis (OA), but the causal variants still have to be determined. Here, the authors apply a massively-parallel reporter assay to screen 1,605 candidate SNPs in 35 OA loci, which prioritizes six SNPs in four loci, one of which, rs4730222, is characterized in more detail.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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