rs1054204
This variant is located in the SPARC gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Osteoporosis genome‐wide association study variant c.3781 C>A is regulated by a novel anti‐osteogenic factor miR‐345‐5pFunctionalYa Wang et al.(2020)· Human Mutation
This functional study investigated the molecular mechanism of the osteoporosis GWAS variant USF3 c.3781C>A (rs1026364), which is associated with femoral neck BMD (P=4.1×10⁻¹⁰). The authors demonstrated that the c.3781A allele creates a functional binding site for hsa-miR-345-5p, which downregulates USF3 expression and inhibits osteogenic differentiation through both USF3-dependent and independent pathways, including direct targeting of RUNX3 and SMAD1.
About SPARC
This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]
View all SPARC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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