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Article

Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation.

Human molecular genetics - 1 Sept 2011

Reynard Louise N, Bui Catherine, Canty-Laird Elizabeth G, Young David A, Loughlin John

Abstract excerpt

GDF5 is involved in synovial joint development, maintenance and repair, and the rs143383 C/T single nucleotide polymorphism (SNP) located in the 5'UTR of GDF5 is associated, at the genome-wide significance level, with osteoarthritis susceptibility, and with other musculoskeletal phenotypes includ...

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Identifiers

PMID: 21642387
DOI: 10.1093/hmg/ddr253

Genes

GDF5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21642387-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation.PMID 21642387Read ↗

CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383.Semantic proximity Read ↗

Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism.Semantic proximity Read ↗

An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage.Semantic proximity Read ↗

The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383.Semantic proximity Read ↗

A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.Semantic proximity Read ↗

A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.Semantic proximity Read ↗

The GDF5 rs143383 polymorphism is associated with osteoarthritis of the knee with genome-wide statistical significance.Semantic proximity Read ↗

Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus.Semantic proximity Read ↗

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A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand.Semantic proximity Read ↗

Rs143383 in the growth differentiation factor 5 (GDF5) gene significantly associated with osteoarthritis (OA)-a comprehensive meta-analysis.Semantic proximity Read ↗

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