Ontology highlight
ABSTRACT:
SUBMITTER: Klein JC
PROVIDER: S-EPMC6547687 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Klein Jason C JC Keith Aidan A Rice Sarah J SJ Shepherd Colin C Agarwal Vikram V Loughlin John J Shendure Jay J
Nature communications 20190604 1
To date, genome-wide association studies have implicated at least 35 loci in osteoarthritis but, due to linkage disequilibrium, the specific variants underlying these associations and the mechanisms by which they contribute to disease risk have yet to be pinpointed. Here, we functionally test 1,605 single nucleotide variants associated with osteoarthritis for regulatory activity using a massively parallel reporter assay. We identify six single nucleotide polymorphisms (SNPs) with differential re ...[more]