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

doi:10.1007/s00439-014-1447-z

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Article

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

Human genetics - 1 Aug 2014

Reynard Louise N, Bui Catherine, Syddall Catherine M, Loughlin John

Abstract excerpt

GDF5 encodes an extracellular signalling molecule that is essential for normal skeletal development. The rs144383 C to T SNP located in the 5'UTR of this gene is functional and has a pleiotropic effect on the musculoskeletal system, being a risk factor for knee-osteoarthritis (OA), congenital hip dysplasia, lumbar disc degeneration and Achilles tendon pathology. rs143383 exerts a joint-wide effect on GDF5...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24861163
DOI: 10.1007/s00439-014-1447-z
PMCID: PMC4099533

Genes

GDF5
DEAF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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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.PMID 24861163Read ↗

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

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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.Semantic proximity Read ↗

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