Genome-wide association and functional studies identify a role for matrix Gla protein in osteoarthritis of the hand.

ABSTRACT:

Objective

Osteoarthritis (OA) is the most common form of arthritis and the leading cause of disability in the elderly. Of all the joints, genetic predisposition is strongest for OA of the hand; however, only few genetic risk loci for hand OA have been identified. Our aim was to identify novel genes associated with hand OA and examine the underlying mechanism.

Methods

We performed a genome-wide association study of a quantitative measure of hand OA in 12 784 individuals (discovery: 8743, replication: 4011). Genome-wide significant signals were followed up by analysing gene and allele-specific expression in a RNA sequencing dataset (n=96) of human articular cartilage.

Results

We found two significantly associated loci in the discovery set: at chr12 (p=3.5 × 10^-10</

SUBMITTER: den Hollander W 

PROVIDER: S-EPMC5788019 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature