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Article

Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2002

Vaughan Tanya, Pasco Julie A, Kotowicz Mark A, Nicholson Geoff C, Morrison Nigel A

Abstract excerpt

The aim of this study was to determine if DNA polymorphism within runt-related gene 2 (RUNX2)/core binding factor A1 (CBFA1) is related to bone mineral density (BMD). RUNX2 contains a glutamine-alanine repeat where mutations causing cleidocranial dysplasia (CCD) have been observed. Two common variants were detected within the alanine repeat: an 18-bp deletion and a synonymous alanine codon polymorphism with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12162506
DOI: 10.1359/jbmr.2002.17.8.1527

Genes

RUNX2
GCA
GCG

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture.PMID 12162506Read ↗

Common polymorphisms rather than rare genetic variants of the Runx2 gene are associated with femoral neck BMD in Spanish women.Semantic proximity Read ↗

Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal females.Semantic proximity Read ↗

RUNX2 alleles associated with BMD in Scottish women; interaction of RUNX2 alleles with menopausal status and body mass index.Semantic proximity Read ↗

Multiple genetic loci for bone mineral density and fractures.Semantic proximity Read ↗

Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation.Semantic proximity Read ↗

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.Semantic proximity Read ↗

Genetic markers, bone mineral density, and serum osteocalcin levels.Semantic proximity Read ↗

Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia.Semantic proximity Read ↗

Haplotypes of promoter and intron 1 polymorphisms in the COLIA1 gene are associated with increased risk of osteoporosis.Semantic proximity Read ↗

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Promoter 2 -1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck bmd in Spanish postmenopausal women.Semantic proximity Read ↗

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