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Article

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

European journal of human genetics : EJHG - 1 May 2013

Dodd Andrew W, Syddall Catherine M, Loughlin John

Abstract excerpt

Osteoarthritis (OA) is a polygenic disease characterized by cartilage loss, with the single-nucleotide polymorphism (SNP) rs143383 (C/T) influencing OA susceptibility across a range of ethnic groups. The SNP resides within the 5'-UTR of the growth and differentiation factor 5 gene (GDF5), with th...

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Identifiers

PMID: 22929025
DOI: 10.1038/ejhg.2012.197
PMCID: PMC3641375

Genes

GDF5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22929025-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.PMID 22929025Read ↗

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 ↗

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

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

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

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

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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 ↗

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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