Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism.

ABSTRACT:

Objective

Single-nucleotide polymorphism (SNP) rs143383 (T to C) in the 5'-untranslated region (5'-UTR) of GDF5 has recently been reported to be associated with osteoarthritis (OA) susceptibility, with lower expression of the risk-associated T allele observed in vitro and in vivo. The in vivo studies were performed on cartilage tissue from OA patients. The present study was undertaken to expand the analysis of the effect of this SNP on GDF5 allelic expression to more joint tissue types, to investigate for cis and trans factors that interact with the SNP, and to examine novel cis-acting GDF5 regulatory polymorphisms.

Methods

Tissue samples were collected from OA patients undergoing joint replacement of the hip or knee. Nucleic acid was extracted, and, using rs143383 and an as

SUBMITTER: Egli RJ 

PROVIDER: S-EPMC6860363 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature