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Article

Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome.

Osteoarthritis and cartilage - 1 May 2014

Raine E V A, Reynard L N, van de Laar I M B H, Bertoli-Avella A M, Loughlin J

Abstract excerpt

OBJECTIVE: The TGF-β pathway plays a central role in joint development with polymorphism in TGF-β pathway genes implicated in osteoarthritis susceptibility. One association is to rs12901499, within intron 1 of SMAD3. Since rs12901499 is not in linkage disequilibrium with a non-synonymous polymorphism, it is likely the association is operating by influencing expression of SMAD3. DESIGN: Using tissues from the...

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Source

Open in PubMed Open full text

Identifiers

PMID: 24583347
DOI: 10.1016/j.joca.2014.02.931
PMCID: PMC4032576

Genes

SMAD3

Provenance

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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