Ontology highlight
ABSTRACT: Objectives
How inflammatory signalling contributes to osteoarthritis (OA) susceptibility is undetermined. An allele encoding a hyperactive form of the Receptor Interacting Protein Kinase 2 (RIPK2) proinflammatory signalling intermediate has been associated with familial OA. To test whether altered nucleotide-binding oligomerisation domain (NOD)/RIPK2 pathway activity causes heightened OA susceptibility, we investigated whether variants affecting additional pathway components are associated with familial OA. To determine whether the Ripk2104Asp disease allele is sufficient to account for the familial phenotype, we determined the effect of the allele on mice.Methods
Genomic analysis of 150 independent families with dominant inheritance of OA affecting divers
SUBMITTER: Jurynec MJ
PROVIDER: S-EPMC9474725 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature