rs6458443
This variant is located in the RUNX2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hip geometry
▶Research that mentions this SNP (1)
▶Identification of Novel Loci Associated With Hip Shape: A Meta-Analysis of Genomewide Association StudiesMeta-analysisN=15,934Baird DA et al.(2019)· Journal of Bone and Mineral Research
A GWAS meta-analysis of 15,934 individuals identified 9 SNPs across 8 loci associated with hip shape phenotypes derived from DXA scans. Five SNPs were associated with hip shape mode 1 (HSM1) at genome-wide significance (p < 5×10⁻⁹), three with HSM2, and one with HSM5. Most loci were close to genes involved in endochondral bone formation (SOX9, PTHLH, FGFR4, NKX3-2, DICER1, RUNX1, HHIP) and also associated with height. Three SNPs showed associations with hip osteoarthritis and one with hip fracture risk.
About RUNX2
This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]
View all RUNX2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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