rs9603226
This is a intron variant variant in the POSTN gene.
▶Research that mentions this SNP (1)
▶Association of CDX1 binding site of periostin gene with bone mineral density and vertebral fracture riskAssociationN=4,081Xiao SM et al.(2012)· Osteoporosis International
This study identified periostin (POSTN) as a candidate gene for bone mineral density (BMD) variation and vertebral fracture risk in Hong Kong Southern Chinese populations. The most significant finding was rs9547970, a variant located 2,327 bp upstream of POSTN, which showed strong association with BMD (P=6.8×10⁻⁴, OR=1.41, 95% CI 1.16-1.73) and vertebral fractures (OR=1.33, P=0.007). The association was replicated in an independent prospective cohort. Functional analysis using EMSA demonstrated that rs9547970 disrupts a CDX1 transcription factor binding site.
About POSTN
This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
View all POSTN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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